### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DCC)
# charset = UTF-8

## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{name}}"	"{{chromosome}}"	"{{chrom_band}}"	"{{imprinting}}"	"{{refseq_genomic}}"	"{{refseq_UD}}"	"{{reference}}"	"{{url_homepage}}"	"{{url_external}}"	"{{allow_download}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{show_orphanet}}"	"{{note_index}}"	"{{note_listing}}"	"{{refseq}}"	"{{refseq_url}}"	"{{disclaimer}}"	"{{disclaimer_text}}"	"{{header}}"	"{{header_align}}"	"{{footer}}"	"{{footer_align}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{updated_by}}"	"{{updated_date}}"
"DCC"	"deleted in colorectal carcinoma"	"18"	"q21.1"	"unknown"	"NG_013341.2"	"UD_132118224765"	""	"http://www.LOVD.nl/DCC"	"http://www.irc5.org/\r\nhttp://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1107.xml"	"1"	"2701"	"1630"	"120470"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/DCC_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2012-09-13 00:00:00"	"01796"	"2021-01-19 17:22:47"	"00006"	"2023-01-28 17:52:09"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000628"	"DCC"	"deleted in colorectal carcinoma"	"001"	"NM_005215.3"	""	"NP_005206.2"	""	""	""	"-616"	"9594"	"4344"	"49866542"	"51062273"	"00000"	"2012-09-13 12:41:03"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00091"	"CRC"	"cancer, colorectal, susceptibility to (CRC)"	"AD;SMu"	"114500"	""	""	""	"00001"	"2012-12-07 10:49:46"	"00006"	"2021-12-10 21:51:32"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2016-10-22 17:54:40"
"00882"	"cancer, esophageal"	"cancer, esophageal"	""	"133239"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2019-08-28 08:25:09"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01441"	"MRMV1"	"mirror movements, type 1 (MRMV-1, congenital)"	"AD"	"157600"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03475"	"HCAD"	"Hirschsprung disease, cardiac defects, autonomic dysfunction (HCAD)"	"AD"	"613870"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04304"	"MRMV"	"mirror movements (MRMV)"	""	""	""	""	""	"00006"	"2015-07-19 11:49:15"	""	""
"05198"	"KAL"	"Kallmann syndrome (KAL)"	""	""	""	""	""	"00006"	"2016-10-21 14:34:27"	""	""
"05214"	"ACC"	"corpus callosum, agenesis ACC"	""	"217990"	"brain"	""	""	"00001"	"2017-01-13 19:47:07"	"00006"	"2020-04-22 14:20:16"
"05242"	"HGPPS2"	"gaze palsy, horizontal, with progressive scoliosis, type-2"	"AR"	"617542"	"brain;eyes;spine"	"Horizontal gaze palsy, scoliosis, intellectual disability,  disorganization of white-matter tracts throughout the human central nervous system, loss of all commissural tracts at multiple levels of the neuraxis occurring with or without congenital mirror movements."	"Formerly Developmental Split-Brain syndrome"	"01796"	"2017-03-20 07:43:23"	"00006"	"2021-12-10 23:13:51"
"05420"	"KS"	"Kallmann syndrome"	""	""	""	""	""	"01796"	"2018-04-12 03:54:33"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{geneid}}"	"{{diseaseid}}"
"DCC"	"00091"
"DCC"	"00882"
"DCC"	"01441"
"DCC"	"05214"
"DCC"	"05242"
"DCC"	"05420"


## Individuals ## Do not remove or alter this header ##
## Count = 114
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00050538"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00095320"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095321"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095322"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095323"	""	"00095321"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095324"	""	"00095320"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095325"	""	"00095321"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095326"	"00095322"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	"yes"	"Algeria"	""	"0"	""	""	"North African"	""
"00095327"	""	"00095321"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095328"	"00095322"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	"yes"	"Algeria"	""	"0"	""	""	"North African"	""
"00095329"	"00095322"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	"yes"	"Algeria"	""	"0"	""	""	"North African"	""
"00095330"	"00095322"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	"yes"	"Algeria"	""	"0"	""	""	"North African"	""
"00095331"	""	"00095323"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095332"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Australia"	""	"0"	""	""	"white"	""
"00095333"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Australia"	""	"0"	""	""	"white"	""
"00095334"	""	"00095332"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Australia"	""	"0"	""	""	"white"	""
"00095335"	""	"00095334"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"Australia"	""	"0"	""	""	"white"	""
"00095336"	""	"00095334"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"Australia"	""	"0"	""	""	"white"	""
"00095337"	""	"00095334"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"Australia"	""	"0"	""	""	"white"	""
"00095338"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095339"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095340"	"00095339"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095341"	"00095338"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095342"	"00095338"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095343"	"00095339"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095344"	"00095338"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Algeria"	""	"0"	""	""	"North African"	""
"00095345"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Australia"	""	"0"	""	""	"white"	""
"00095346"	""	"00095345"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Australia"	""	"0"	""	""	"white"	""
"00095347"	""	"00095346"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"Australia"	""	"0"	""	""	"white"	""
"00095348"	""	"00095346"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Australia"	""	"0"	""	""	"white"	""
"00095349"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	""	""	"0"	""	""	"African"	""
"00095350"	"00095349"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	""	""	"0"	""	""	"African"	""
"00095351"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"France"	""	"0"	""	""	"white"	""
"00095352"	"00095351"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"France"	""	"0"	""	""	"white"	""
"00095353"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"France"	""	"0"	""	""	"white/Asian"	""
"00095354"	"00095353"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"France"	""	"0"	""	""	"white/Asian"	""
"00095355"	"00095353"	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"France"	""	"0"	""	""	"white/Asian"	""
"00095356"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"Armenia;Belarus"	""	"0"	""	""	"white"	""
"00095357"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"United States"	""	"0"	""	""	"white"	""
"00095358"	""	"00095357"	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"United States"	""	"0"	""	""	"white"	""
"00095359"	"00095360"	""	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"M"	""	"Germany"	""	"0"	""	""	"white"	""
"00095360"	""	""	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"M"	""	"Germany"	""	"0"	""	""	"white"	""
"00095361"	""	""	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"M"	""	""	""	"0"	""	""	"African"	""
"00095362"	""	""	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"F"	""	"France"	""	"0"	""	""	"white"	""
"00095363"	""	"00095362"	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"F"	""	"France"	""	"0"	""	""	"white"	""
"00095364"	""	""	""	"1"	""	"01796"	"{PMID:Meneret 2015:26011025}"	""	"M"	""	"France"	""	"0"	""	""	"white"	""
"00095365"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"F"	""	"France"	""	"0"	""	""	"white"	""
"00095366"	""	""	""	"1"	""	"01796"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	"M"	""	"France"	""	"0"	""	""	"white"	""
"00095370"	""	""	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"F"	""	"Italy"	""	"0"	""	""	"white"	""
"00095371"	""	""	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	"white"	""
"00095372"	""	""	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"F"	""	"United States"	""	"0"	""	""	"white"	""
"00095373"	""	""	""	"1"	""	"01796"	"{PMID:Srour 2010:20431009}"	""	"M"	""	"Iran"	""	"0"	""	""	"Persian"	""
"00095374"	""	""	""	"1"	""	"01796"	"{PMID:Srour 2010:20431009}"	""	"M"	""	"Iran"	""	"0"	""	""	"Persian"	""
"00095375"	"00095373"	""	""	"1"	""	"01796"	"{PMID:Srour 2010:20431009}"	""	"M"	""	"Iran"	""	"0"	""	""	"Persian"	""
"00095376"	"00095373"	""	""	"1"	""	"01796"	"{PMID:Srour 2010:20431009}"	""	"M"	""	"Iran"	""	"0"	""	""	"Persian"	""
"00095377"	"00095373"	""	""	"1"	""	"01796"	"{PMID:Srour 2010:20431009}"	""	"M"	""	"Iran"	""	"0"	""	""	"Persian"	""
"00095378"	"00095374"	""	""	"1"	""	"01796"	"{PMID:Srour 2010:20431009}"	""	"M"	""	"Iran"	""	"0"	""	""	"Persian"	""
"00095379"	"00095374"	""	""	"1"	""	"01796"	"{PMID:Srour 2010:20431009}"	""	"M"	""	"Iran"	""	"0"	""	""	"Persian"	""
"00095380"	""	""	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095381"	"00095380"	""	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"F"	""	"Canada"	""	"0"	""	""	"white"	""
"00095382"	"00095380"	""	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"F"	""	"Canada"	""	"0"	""	""	"white"	""
"00095383"	"00095380"	""	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"F"	""	"Canada"	""	"0"	""	""	"white"	""
"00095384"	""	"00095381"	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095385"	""	"00095381"	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"F"	""	"Canada"	""	"0"	""	""	"white"	""
"00095386"	""	"00095381"	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095387"	""	"00095381"	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095388"	""	"00095381"	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095389"	""	"00095381"	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095390"	""	"00095382"	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095391"	""	"00095383"	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"F"	""	"Canada"	""	"0"	""	""	"white"	""
"00095392"	"00095386"	""	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095393"	"00095387"	""	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095394"	"00095389"	""	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"F"	""	"Canada"	""	"0"	""	""	"white"	""
"00095395"	""	"00095391"	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095396"	""	"00095394"	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095397"	""	"00095394"	""	"1"	""	"01796"	"{PMID:Srour 2009:19720981}"	""	"M"	""	"Canada"	""	"0"	""	""	"white"	""
"00095398"	""	""	""	"1"	""	"01796"	"{PMID:Borgheresi 2010:20544811} {PMID:Welniarz 2017:28341853}"	""	"F"	""	"Italy"	""	"0"	""	""	"white"	""
"00095399"	""	"00095400"	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"M"	""	"France"	""	"0"	""	""	"white"	""
"00095400"	""	""	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"F"	""	"France"	""	"0"	""	""	"white"	""
"00095401"	""	""	""	"4"	""	"01796"	"{PMID:Franz 2015:25813273}"	"2-generation family, 4 affected (F, 3M), mother"	"F"	""	"Australia"	""	"0"	""	""	"white"	""
"00095402"	""	"00095401"	"00095401"	"1"	""	"01796"	"{PMID:Franz 2015:25813273}"	""	"M"	""	"Australia"	""	"0"	""	""	"white"	""
"00095403"	""	"00095401"	"00095401"	"1"	""	"01796"	"{PMID:Franz 2015:25813273}"	""	"M"	""	"Australia"	""	"0"	""	""	"white"	""
"00095404"	""	"00095401"	"00095401"	"1"	""	"01796"	"{PMID:Franz 2015:25813273}"	""	"M"	""	"Australia"	""	"0"	""	""	"white"	""
"00095405"	""	""	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"F"	""	"Germany"	""	"0"	""	""	"white"	""
"00095406"	""	""	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"F"	""	"Germany"	""	"0"	""	""	"white"	""
"00095407"	""	"00095406"	""	"1"	""	"01796"	"{PMID:Meneret 2014:24808016}"	""	"F"	""	"Germany"	""	"0"	""	""	"white"	""
"00095408"	""	""	""	"1"	""	"01796"	"{PMID:Depienne 2011:21242494}"	""	"F"	""	"Italy"	""	"0"	""	""	"white"	""
"00095409"	""	"00095408"	""	"1"	""	"01796"	"{PMID:Depienne 2011:21242494} {PMID:Welniarz 2017:28341853}"	""	"F"	""	"Italy"	""	"0"	""	""	"white"	""
"00095410"	""	"00095408"	""	"1"	""	"01796"	"{PMID:Depienne 2011:21242494} {PMID:Welniarz 2017:28341853}"	""	"M"	""	"Italy"	""	"0"	""	""	"white"	""
"00095411"	"00095410"	""	""	"1"	""	"01796"	"{PMID:Depienne 2011:21242494}"	""	"M"	""	"Italy"	""	"0"	""	""	"white"	""
"00101207"	""	""	""	"1"	""	"01796"	"{PMID:Griebel 1995:8534276}"	""	"M"	""	""	""	"0"	""	""	"white"	""
"00101208"	""	""	""	"3"	""	"01796"	"{PMID:Jamuar et al 2017:28250456}"	"mother of 00101209 and 00101210"	"F"	""	"Mexico"	""	"0"	""	""	"Hispanic"	""
"00101209"	""	""	"00101208"	"1"	""	"01796"	"{PMID:Jamuar et al 2017:28250456}"	"offspring of 00101208"	"M"	"yes"	"Mexico"	""	"0"	""	""	"Hispanic"	""
"00101210"	""	""	"00101208"	"1"	""	"01796"	"{PMID:Jamuar 2017:28250456}"	"offspring of 00101208"	"M"	"yes"	"Mexico"	""	"0"	""	""	"Hispanic"	""
"00101372"	""	""	""	"3"	""	"01796"	"{PMID:Jamuar et al 2017:28250456}"	"father of 00101374"	"M"	""	"Saudi Arabia"	""	"0"	""	""	"Arabic"	""
"00101373"	""	""	"00101372"	"1"	""	"01796"	"{PMID:Jamuar et al 2017:28250456}"	"mother of 00101374"	"F"	""	"Saudi Arabia"	""	"0"	""	""	"Arabic"	""
"00101374"	""	""	"00101372"	"1"	""	"01796"	"{PMID:Jamuar 2017:28250456}"	"offspring of 00101372 and 00101373"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arabic"	""
"00108613"	""	""	""	"1"	""	"01796"	"{PMID:Jamuar 2017:28250456}"	""	"F"	"no"	"United States"	""	"0"	""	""	"white"	""
"00108614"	""	""	""	"1"	""	"01796"	"{PMID:Jamuar 2017:28250456}"	"mother of 00108613"	"F"	""	"United States"	""	"0"	""	""	"white"	""
"00133268"	""	""	""	"1"	""	"02312"	""	""	"M"	""	"Hong Kong"	""	"0"	""	""	""	"HK180C"
"00144655"	""	""	""	"3"	""	"02346"	"{PMID:Bierhals 2018:29366874}"	""	"F"	"no"	"Germany"	""	"0"	""	""	"white"	"P3a"
"00144656"	""	""	""	"1"	""	"02346"	"{PMID:Bierhals 2018:29366874}"	""	"M"	"no"	"Germany"	""	"0"	""	""	"white"	"P1"
"00144658"	""	""	""	"1"	""	"02346"	"{PMID:Bierhals 2018:29366874}"	""	"M"	"no"	"Turkey"	""	"0"	""	""	"white"	"P2"
"00144660"	""	""	""	"4"	""	"02346"	"{PMID:Bierhals 2018:29366874}"	""	"M"	"no"	"Germany"	""	"0"	""	""	"white"	"P4a"
"00144662"	""	""	""	"1"	""	"02346"	"{PMID:Bierhals 2018:29366874}"	""	"M"	"no"	"Spain"	""	"0"	""	""	"white"	"P5"
"00163781"	""	""	""	"1"	""	"01796"	"{PMID:Bouilly 2018:29202173}"	"Caucasian"	"M"	"no"	""	""	"0"	""	""	""	""
"00163782"	""	""	""	"1"	""	"01796"	"{PMID:Bouilly 2018:29202173}"	"Caucasian"	"M"	"no"	""	""	"0"	""	""	""	""
"00163783"	""	""	""	"1"	""	"01796"	"{PMID:Bouilly 2018:29202173}"	"Indian subcontinent descent"	"F"	"no"	""	""	"0"	""	""	""	""
"00163784"	""	""	""	"1"	""	"01796"	"{PMID:Bouilly 2018:29202173}"	"Caucasian"	"F"	"no"	""	""	"0"	""	""	""	""
"00291982"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00390071"	""	""	""	"2"	""	"00006"	"{PMID:Nissenkorn 2021:33413009}"	"family, affected father/daughter"	"F"	""	"Israel"	""	"0"	""	""	""	"Fam1Pat1"
"00390072"	""	""	"00390071"	"1"	""	"00006"	"{PMID:Nissenkorn 2021:33413009}"	"father"	"M"	""	"Israel"	""	"0"	""	""	""	"Fam1Pat2"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 158
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00000209"	"01157"
"00050538"	"00198"
"00095320"	"00000"
"00095321"	"00000"
"00095322"	"00198"
"00095323"	"05214"
"00095324"	"05214"
"00095325"	"05214"
"00095326"	"01441"
"00095326"	"05214"
"00095327"	"00000"
"00095328"	"00198"
"00095329"	"00198"
"00095330"	"00000"
"00095331"	"05214"
"00095332"	"00000"
"00095333"	"00198"
"00095334"	"01441"
"00095334"	"05214"
"00095335"	"01441"
"00095335"	"05214"
"00095336"	"01441"
"00095336"	"05214"
"00095337"	"01441"
"00095337"	"05214"
"00095338"	"01441"
"00095339"	"01441"
"00095340"	"01441"
"00095340"	"05214"
"00095341"	"01441"
"00095341"	"05214"
"00095342"	"05214"
"00095343"	"01441"
"00095344"	"00000"
"00095345"	"00198"
"00095346"	"01441"
"00095347"	"01441"
"00095347"	"05214"
"00095348"	"01441"
"00095349"	"00198"
"00095350"	"05214"
"00095351"	"00198"
"00095352"	"05214"
"00095353"	"00198"
"00095354"	"05214"
"00095355"	"05214"
"00095356"	"05214"
"00095357"	"00000"
"00095358"	"05214"
"00095359"	"00198"
"00095359"	"01441"
"00095360"	"00198"
"00095360"	"01441"
"00095361"	"00198"
"00095361"	"01441"
"00095362"	"01441"
"00095363"	"01441"
"00095364"	"01441"
"00095364"	"05214"
"00095365"	"00198"
"00095366"	"00198"
"00095370"	"00198"
"00095370"	"01441"
"00095371"	"00198"
"00095371"	"01441"
"00095372"	"00198"
"00095372"	"01441"
"00095373"	"00198"
"00095374"	"01441"
"00095375"	"01441"
"00095376"	"00198"
"00095377"	"00198"
"00095377"	"01441"
"00095378"	"00000"
"00095379"	"01441"
"00095380"	"00198"
"00095381"	"00198"
"00095382"	"00198"
"00095383"	"00198"
"00095384"	"01441"
"00095385"	"00198"
"00095386"	"00198"
"00095386"	"01441"
"00095387"	"00198"
"00095387"	"01441"
"00095388"	"00198"
"00095388"	"01441"
"00095389"	"00198"
"00095389"	"01441"
"00095390"	"00198"
"00095390"	"01441"
"00095391"	"00198"
"00095391"	"01441"
"00095392"	"00198"
"00095393"	"00198"
"00095393"	"01441"
"00095394"	"00198"
"00095394"	"01441"
"00095395"	"00198"
"00095395"	"01441"
"00095396"	"00198"
"00095396"	"01441"
"00095397"	"00198"
"00095397"	"01441"
"00095398"	"00198"
"00095398"	"01441"
"00095399"	"00198"
"00095399"	"01441"
"00095400"	"00198"
"00095401"	"00198"
"00095401"	"01441"
"00095402"	"00198"
"00095402"	"01441"
"00095403"	"00198"
"00095403"	"01441"
"00095404"	"00198"
"00095404"	"01441"
"00095405"	"00198"
"00095405"	"01441"
"00095406"	"00198"
"00095406"	"01441"
"00095407"	"00198"
"00095407"	"01441"
"00095408"	"00198"
"00095408"	"01441"
"00095409"	"01441"
"00095410"	"00198"
"00095410"	"01441"
"00095411"	"00198"
"00095411"	"01441"
"00101207"	"00198"
"00101207"	"05214"
"00101208"	"00000"
"00101209"	"01441"
"00101209"	"05242"
"00101210"	"01441"
"00101210"	"05242"
"00101372"	"00000"
"00101373"	"00000"
"00101374"	"05242"
"00108613"	"05214"
"00108614"	"00198"
"00133268"	"03475"
"00144655"	"01441"
"00144656"	"01441"
"00144658"	"01441"
"00144660"	"01441"
"00144662"	"01441"
"00163781"	"01441"
"00163781"	"05198"
"00163782"	"01441"
"00163782"	"05198"
"00163783"	"05198"
"00163784"	"05198"
"00291982"	"00198"
"00390071"	"04304"
"00390072"	"04304"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 00882, 01157, 01441, 03475, 04304, 05198, 05214, 05242, 05420
## Count = 114
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Development/Motor_skills}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Severity_score}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Cysts}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/MRI/brain}}"	"{{Phenotype/Eye/Retina}}"	"{{Phenotype/Neoplasm}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000037150"	"00198"	"00050538"	"00006"	"Isolated (sporadic)"	""	"microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	""	"3w"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	""	"07y04m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073720"	"00000"	"00095320"	"01796"	"Unknown"	""	"Brain MRI performed"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073721"	"00000"	"00095321"	"01796"	"Unknown"	""	"Brain CT performed"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073722"	"00198"	"00095322"	"01796"	"Unknown"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073723"	"05214"	"00095323"	"01796"	"Familial, autosomal dominant"	""	"MRI brain complete agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073724"	"05214"	"00095324"	"01796"	"Familial, autosomal dominant"	""	"MRI brain partial agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073725"	"05214"	"00095325"	"01796"	"Familial, autosomal dominant"	""	"MRI brain complete agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073726"	"05214"	"00095326"	"01796"	"Familial, autosomal dominant"	""	"MRI brain partial agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073727"	"00000"	"00095327"	"01796"	"Familial, autosomal dominant"	""	"Brain MRI performed"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073728"	"00198"	"00095328"	"01796"	"Familial, autosomal dominant"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073729"	"00198"	"00095329"	"01796"	"Familial, autosomal dominant"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073730"	"00000"	"00095330"	"01796"	"Familial, autosomal dominant"	""	"Brain MRI performed"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073731"	"05214"	"00095331"	"01796"	"Familial, autosomal dominant"	""	"MRI brain complete agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073732"	"00000"	"00095332"	"01796"	"Unknown"	""	"Brain MRI performed"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073733"	"00198"	"00095333"	"01796"	"Unknown"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073734"	"05214"	"00095334"	"01796"	"Familial, autosomal dominant"	""	"severity score Woods & Teuber 2; mirror movement functional effect = taps/cooking/dishes/drawing; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. Mirror movement asymmetry (L>R)"	""	"Mirror movement functional effect = taps/cooking/dishes/drawing"	""	"Woods & Teuber 2"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073735"	"05214"	"00095335"	"01796"	"Familial, autosomal dominant"	""	"severity score Woods & Teuber 2; no functional effect motor skills; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R)"	""	"No functional effect"	""	"Woods & Teuber 2"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073736"	"05214"	"00095336"	"01796"	"Familial, autosomal dominant"	""	"severity score Woods & Teuber 2; no functional effect motor skills; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R)"	""	"No functional effect"	""	"Woods & Teuber 2"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073737"	"05214"	"00095337"	"01796"	"Familial, autosomal dominant"	""	"severity score Woods & Teuber 3; mirror movement functional effect = writng/drawing/dishes; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R)"	""	"Mirror movement functional effect = writng/drawing/dishes"	""	"Woods & Teuber 3"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073738"	"01441"	"00095338"	"01796"	"Unknown"	""	"no additional phenotype"	""	""	""	"0"	""	""	""	""	""	""	""	"CT"	""	""	""	""	""
"0000073739"	"01441"	"00095339"	"01796"	"Unknown"	""	"no additional phenotype"	""	"Difficulties in fine bimanual activities, writing and general clumsiness"	""	"Woods & Teuber 3 (hands and forearms)"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073740"	"05214"	"00095340"	"01796"	"Familial, autosomal dominant"	""	"severity score Woods & Teuber 2 (hands and forearms); difficulties in fine bimanual activities. General clumsiness; MRI brain partial agenesis corpus callosum"	""	"Difficulties in fine bimanual activities. General clumsiness"	""	"Woods & Teuber 2 (hands and forearms)"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073741"	"05214"	"00095341"	"01796"	"Familial, autosomal dominant"	""	"MRI brain partial agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073742"	"05214"	"00095342"	"01796"	"Familial, autosomal dominant"	""	"MRI brain complete agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073743"	"01441"	"00095343"	"01796"	"Familial, autosomal dominant"	""	"no additional phenotype"	""	"Difficulties in fine bimanual activities, writing and general clumsiness"	""	"Woods & Teuber 4 (hands and forearms)"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073744"	"00000"	"00095344"	"01796"	"Familial, autosomal dominant"	""	"Brain MRI performed"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073745"	"00198"	"00095345"	"01796"	"Unknown"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073746"	"01441"	"00095346"	"01796"	"Familial, autosomal dominant"	""	"Fingers/hands/wrists/toes/legs. Mirror movement asymmetry (L>R). Right handed"	""	"No functional effect"	""	"Woods & Teuber 2"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073747"	"05214"	"00095347"	"01796"	"Familial, autosomal dominant"	""	"severity score Woods & Teuber 2; no functional effect motor skills; MRI brain partial agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R)"	""	"No functional effect"	""	"Woods & Teuber 3"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073748"	"01441"	"00095348"	"01796"	"Familial, autosomal dominant"	""	"Fingers/hands/wrists. L>R mirror movement asymmetry. Ambidextrous"	""	"Mirror movement functional effect = writing"	""	"Woods & Teuber 3"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073749"	"00198"	"00095349"	"01796"	"Unknown"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073750"	"05214"	"00095350"	"01796"	"Familial, autosomal dominant"	""	"MRI brain complete agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073751"	"00198"	"00095351"	"01796"	"Unknown"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073752"	"05214"	"00095352"	"01796"	"Familial, autosomal dominant"	""	"MRI brain complete agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073753"	"00198"	"00095353"	"01796"	"Unknown"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073754"	"05214"	"00095354"	"01796"	"Familial, autosomal dominant"	""	"MRI brain complete agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073755"	"05214"	"00095355"	"01796"	"Familial, autosomal dominant"	""	"MRI brain complete agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073756"	"05214"	"00095356"	"01796"	"Unknown"	""	"MRI brain complete agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073757"	"00000"	"00095357"	"01796"	"Unknown"	""	"Brain MRI performed"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073758"	"05214"	"00095358"	"01796"	"Familial, autosomal dominant"	""	"MRI brain complete agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073759"	"01441"	"00095359"	"01796"	"Familial, autosomal dominant"	""	""	""	"Difficulties in fine bimanual activities and everyday tasks"	""	"Woods & Teuber 3 (hands)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073760"	"01441"	"00095360"	"01796"	"Unknown"	""	""	""	"None"	""	"Woods & Teuber 2-3 (hands and forearms)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073761"	"01441"	"00095361"	"01796"	"Familial, autosomal dominant"	""	""	""	"Writing fatigability"	""	"Woods & Teuber 2 (hands and forearms > feet)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073762"	"01441"	"00095362"	"01796"	"Familial, autosomal dominant"	""	"no additional phenotype"	""	"Unable to perform a purely unimanual movement. Difficulties in fine bimanual activities. Painful contralateral hand contractions while writing"	""	"Woods & Teuber 3 (hands, forearms and arms)"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073763"	"01441"	"00095363"	"01796"	"Familial, autosomal dominant"	""	""	""	"Clumsiness and inability to perform pure unimanual activities. Difficulties in fine bimanual activities"	""	"Woods & Teuber 3 (hands and forearms)"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073764"	"05214"	"00095364"	"01796"	"Familial, autosomal dominant"	""	"MRI brain partial agenesis corpus callosum"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073765"	"00000"	"00095365"	"01796"	"Familial, autosomal dominant"	""	"Brain MRI performed (normal), has not been clinically assessed for congenital mirror movements"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073766"	"00198"	"00095366"	"01796"	"Familial, autosomal dominant"	""	"No brain MRI performed, has not been clinically assessed for congenital mirror movements"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073770"	"01441"	"00095370"	"01796"	"Familial, autosomal dominant; Isolated (sporadic)"	""	""	""	"None"	""	"Woods & Teuber 3 (hands and forearms)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073771"	"01441"	"00095371"	"01796"	"Familial, autosomal dominant"	""	""	""	"Difficulties in fine bimanual activities"	""	"Woods & Teuber 3 (hands and forearms)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073772"	"01441"	"00095372"	"01796"	"Unknown"	""	"Parkinson\'s disease"	""	"Difficulties in fine bimanual and bipedal activities"	""	"Woods & Teuber 3 (hands and forearms > feet and legs)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073773"	"00198"	"00095373"	"01796"	"Unknown"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073774"	"01441"	"00095374"	"01796"	"Unknown"	""	"CMM confirmed by electromyography"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073775"	"01441"	"00095375"	"01796"	"Familial, autosomal dominant"	""	"CMM confirmed by electromyography"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073776"	"00198"	"00095376"	"01796"	"Familial, autosomal dominant"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073777"	"00198"	"00095377"	"01796"	"Familial, autosomal dominant"	""	"CMM confirmed by electromyography"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073778"	"00000"	"00095378"	"01796"	"Familial, autosomal dominant"	""	"Brain MRI performed"	""	""	""	"0"	"ashley.marsh"	""	""	""	""	""	""	""	""	""	""	""	""
"0000073779"	"01441"	"00095379"	"01796"	"Familial, autosomal dominant"	""	"CMM confirmed by electromyography"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073780"	"00198"	"00095380"	"01796"	"Unknown"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073781"	"00198"	"00095381"	"01796"	"Familial, autosomal dominant"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073782"	"00198"	"00095382"	"01796"	"Familial, autosomal dominant"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073783"	"00198"	"00095383"	"01796"	"Familial, autosomal dominant"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073784"	"01441"	"00095384"	"01796"	"Familial, autosomal dominant"	""	"Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace"	""	""	""	"0"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073785"	"00198"	"00095385"	"01796"	"Familial, autosomal dominant"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073786"	"00198"	"00095386"	"01796"	"Familial, autosomal dominant"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073787"	"00198"	"00095387"	"01796"	"Familial, autosomal dominant"	""	"Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073788"	"00198"	"00095388"	"01796"	"Familial, autosomal dominant"	""	"Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073789"	"00198"	"00095389"	"01796"	"Familial, autosomal dominant"	""	"Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073790"	"00198"	"00095390"	"01796"	"Familial, autosomal dominant"	""	"Transcranial magnetic studies - contralateral + ipsilateral motor evoked potentials from unilateral transcortical stimulation of motor area. Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073791"	"00198"	"00095391"	"01796"	"Familial, autosomal dominant"	""	"Transcranial magnetic studies - contralateral + ipsilateral motor evoked potentials from unilateral transcortical stimulation of motor area. Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073792"	"00198"	"00095392"	"01796"	"Familial, autosomal dominant"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073793"	"00198"	"00095393"	"01796"	"Familial, autosomal dominant"	""	"Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073794"	"00198"	"00095394"	"01796"	"Familial, autosomal dominant"	""	"Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073795"	"00198"	"00095395"	"01796"	"Familial, autosomal dominant"	""	"Transcranial magnetic studies - contralateral + ipsilateral motor evoked potentials from unilateral transcortical stimulation of motor area. Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073796"	"00198"	"00095396"	"01796"	"Familial, autosomal dominant"	""	"Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073797"	"00198"	"00095397"	"01796"	"Familial, autosomal dominant"	""	"Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073798"	"01441"	"00095398"	"01796"	"Unknown"	""	"Parkinson\'s disease. Frequency of ipsilateral MEPs = 100%. Relative amplitude (MEPipsi/MEPcontra) = 409%. Latency of contralateral MEPs (ms) = 22,5. Latency of ipsilateral MEPs (ms) = 22,1."	""	"None"	""	"Woods & Teuber 3 (hands and forearms)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073799"	"01441"	"00095399"	"01796"	"Familial, autosomal dominant"	""	""	""	"Difficulties in fine bimanual activities. General clumsiness"	""	"Woods & Teuber 4 (hands, forearms and arms)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073800"	"00198"	"00095400"	"01796"	"Unknown"	""	"N/A"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073801"	"00198"	"00095401"	"01796"	"Unknown"	""	"DexterO (Franz Lab, University of Otago) accelerometer gloves - micro-movements"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073802"	"00198"	"00095402"	"01796"	"Familial, autosomal dominant"	""	"Fractionated mirroring (fragmented, saccadic movements)"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073803"	"00198"	"00095403"	"01796"	"Familial, autosomal dominant"	""	"DexterO (Franz Lab, University of Otago) accelerometer gloves - micro-movements"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073804"	"00198"	"00095404"	"01796"	"Familial, autosomal dominant"	""	"Fractionated mirroring (fragmented, saccadic movements)"	""	""	""	"0"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000073805"	"01441"	"00095405"	"01796"	"Unknown"	""	""	""	"Compensatory maneuvers to limit MRMV1"	""	"Woods & Teuber 3 (hands and forearms)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073806"	"01441"	"00095406"	"01796"	"Unknown"	""	""	""	"Difficulties in fine bimanual activities. Compensatory maneuvers"	""	"Woods & Teuber 3 (hands and forearms)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073807"	"01441"	"00095407"	"01796"	"Familial, autosomal dominant"	""	""	""	"Difficulties in fine bimanual activities. Compensatory maneuvers"	""	"Woods & Teuber 4 (hands and forearms)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073808"	"01441"	"00095408"	"01796"	"Unknown"	""	"Depression"	""	"Difficulties in fine bimanual activities"	""	"Woods & Teuber 3 (hands and forearms)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073809"	"01441"	"00095409"	"01796"	"Familial, autosomal dominant"	""	"Voluntary EMG - abnormal bilateral EMG activity during unilateral contraction of APB muscle. Focal TMS - abnormal bilateral motor evoked potentials in the thenar muscle following unilateral stimulation of the motor cortex. Shorter cortical silent period following unilateral M1 stimulation; lengthening of cortical silent period following bilateral M1 stimulation. During intended unilateral contraction, dissocciation of task-related short-interval intracortical inhibition modulation between task and mirror APB. F waves - normal ipsilateral F waves evoked from unilateral median nerve stimulation. SEP - normal, lateralized latencies of the N20 and P25 parietal components of the median nerve somatosensory evoked potentials. LLR - normal ipsilateral V1 but abnormal bilateral V2 long-latency EMG responses recorded in both thenar muscles.\r\n\r\nFrequency of ipsilateral MEPs = 100%. Relative amplitude (MEPipsi/MEPcontra) = 47%. Latency of contralateral MEPs (ms) = 21,9. Latency of ipsilateral MEPs (ms) = 22,5."	""	"Difficulties in fine bimanual activities; pain/cramp during sustained manual activities"	""	"Woods & Teuber 3 (hands, forearms and arms)"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000073810"	"01441"	"00095410"	"01796"	"Familial, autosomal dominant"	""	"Frequency of ipsilateral MEPs = 100%. Relative amplitude (MEPipsi/MEPcontra) = 322%. Latency of contralateral MEPs (ms) = 23,0. Latency of ipsilateral MEPs (ms) = 22,7."	""	"Difficulties in fine bimanual activities"	""	"Woods & Teuber 3 (hands, forearms and arms)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000073811"	"01441"	"00095411"	"01796"	"Familial, autosomal dominant"	""	"Fallot tetralogy. CMM improvement with aging"	""	"Difficulties in fine bimanual activities"	""	"Woods & Teuber 3 (hands, forearms and arms)"	""	""	""	""	""	""	""	"no"	""	""	""	""	""
"0000079450"	"05214"	"00101207"	"01796"	"Unknown"	""	"CT brain complete agenesis corpus callosum, growth hormone deficiency, seizures, short stature, global developmental delay, right hemiparesis, hydrocephalus requiring shunt"	""	""	""	""	""	""	""	""	""	""	""	"CT"	""	""	""	""	""
"0000079452"	"00000"	"00101208"	"01796"	"Unknown"	""	"Brain CT performed"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000079575"	"00000"	"00101372"	"01796"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000079577"	"00000"	"00101373"	"01796"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000079578"	"05242"	"00101374"	"01796"	"Familial, autosomal recessive"	""	"Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Global motor delay, horizontal gaze palsy, intellectual disability, scoliosis."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000079579"	"05242"	"00101210"	"01796"	"Familial, autosomal recessive"	""	"Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Horizontal gaze palsy, intellectual disability, progressive scoliosis, global developmental delay, hypotonia. Mirror movements."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000079581"	"05242"	"00101209"	"01796"	"Familial, autosomal recessive"	""	"Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Horizontal gaze palsy, intellectual disability, progressive scoliosis, global developmental delay, hypotonia, short stature. Mirror movements."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000086090"	"05214"	"00108613"	"01796"	"Familial, autosomal dominant"	""	"MRI brain complete agenesis corpus callosum with a small pons and small inferior aspect of the midbrain. Severe cognitive impairments and global developmental delay with significant emotional/behavioral problems, including anxiety. The affected individual also has strabismus, cortical visual impairment and a history of febrile seizures."	""	""	""	""	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000086091"	"00198"	"00108614"	"01796"	"Unknown"	""	"No MRMV-1"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000117392"	"01441"	"00144655"	"02346"	"Familial, autosomal dominant"	""	"Parry-Romberg syndrome. Could suppress the CMM partially so that she was able to write bimanually with a computer keyboard. There were no CMM of her feet."	""	""	""	"Woods & Teuber 2"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000117393"	"01441"	"00144656"	"02346"	"Familial, autosomal dominant"	""	"MM could be suppressed, to some degree, by voluntarily increasing the muscle tone in the non-task hand, but complete suppression was not possible."	""	""	""	"Woods & Teuber 3"	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000117395"	"01441"	"00144658"	"02346"	"Isolated (sporadic)"	""	"Dissociated movements of the two hands are slower, more clumsy and need concentrated planning; MM seem to be partially suppressed when bimanual tasks are performed; MM in resting hand is visible when only one hand is “working”"	""	""	""	"Woods & Teuber 3"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000117396"	"01441"	"00144660"	"02346"	"Familial, autosomal dominant"	""	"Hands and forearms. Mild difficulties in fine bimanual activities. Mirror movement asymmetry (L>R). Migraine."	""	""	""	"Woods & Teuber 2R-3L"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000117398"	"01441"	"00144662"	"02346"	"Familial, autosomal dominant"	""	"Clumsiness, difficulties in fine bimanual activities. Hands, forearms and arms. Gross motor development was slightly delayed."	""	""	""	"Woods & Teuber 2"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000128901"	"05198"	"00163781"	"01796"	"Familial, autosomal dominant"	""	"Absent puberty\r\nCryptorchidism\r\nMicropenis\r\nRight inguinal hernia\r\nHypospadias\r\nMild facial asymmetry \r\nRight ear hypoplasia\r\nAnosmic (< 5th %ile)\r\n\r\nAt age 13, he had absent puberty (testes 1 ml) and hormonal profiling compatible with hypogonadotropic hypogonadism (T<1.0 nmol/l, LH&FSH < 0.5 U/l)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000128902"	"01441"	"00163781"	"01796"	"Familial, autosomal dominant"	""	"delayed childhood motor milestones; 3y-head CT normal"	""	"Mild bilateral synkinesia"	""	""	""	""	""	""	""	""	""	"CT"	""	""	""	""	""
"0000128903"	"05198"	"00163782"	"01796"	"Unknown"	""	"Absent puberty\r\nMicropenis without cryptorchidism\r\nMental retardation\r\nObesity \r\nGlucose intolerance\r\nModerate hypotonia \r\n\r\nCavum septum pellucidum, reduced pituitary volume, decreased Rathke’s cyst, olfactory bulb asymmetry\r\n\r\nGonadotropines levels were low for minipuberty (LH 0.5 U/l, FSH 0.7 U/l) without dysfunction of other pituitary axes"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000128904"	"01441"	"00163782"	"01796"	"Familial, autosomal dominant"	""	"CMM, iInfancy was marked by retarded speech"	""	"Retarded psychomotor development"	""	""	""	""	""	""	""	""	""	"MRI"	""	""	""	""	""
"0000128905"	"05198"	"00163783"	"01796"	"Familial, autosomal dominant"	""	"Absent puberty despite a normal stature (170 cm)\r\nSerum measurement of reproductive hormones showed hypogonadotropic hypogonadism (T < 1 nmol/L, LH < 1 IU/L, FSH < 1 IU/L)\r\nObesity\r\nAnosmic\r\nBorn without cryptorchidism nor micropenis\r\nMRI not performed"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000128906"	"05198"	"00163784"	"01796"	"Familial, autosomal dominant"	""	"Absent puberty\r\nAnosmic (UPSIT: 13/40, <5th %ile)\r\nPrimary amenorrhea\r\nlack of pubertal development and hormonal profiling revealed undetectable gonadotropins (LH/FSH < 1.0 U/L) in the setting of low estradiol levels (< 60 pmol/L)\r\nBilateral sensorineural hearing loss\r\nOsteopenia (hip)\r\nAbsence of olfactory bulb"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000283609"	"04304"	"00390071"	"00006"	"Familial, autosomal dominant"	"2y"	"MRI brain partial agenesis corpus callosum; dysplastic corpus callosum, asymmetric ventriculomegaly; mild gross motor delay, mild fine motor delay; regular education; OFC -1.5 SD; no epilepsy; no cerebellar signs; no dystonia"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital mirror movement"	""
"0000283610"	"04304"	"00390072"	"00006"	"Familial, autosomal dominant"	"34y"	"MRI brain partial agenesis corpus callosum; no developmental delay; college graduate; OFC -0.5 SD; no epilepsy; no cerebellar signs; no dystonia"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital mirror movement"	""


## Screenings ## Do not remove or alter this header ##
## Count = 114
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000050483"	"00050538"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000095719"	"00095320"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095720"	"00095321"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095721"	"00095322"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095722"	"00095323"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000095723"	"00095324"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000095724"	"00095325"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000095725"	"00095326"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095726"	"00095327"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095727"	"00095328"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095728"	"00095329"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095729"	"00095330"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095730"	"00095331"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095731"	"00095332"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095732"	"00095333"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095733"	"00095334"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ-NG-I;arrayCNV"	"DNA"	"Blood"	""
"0000095734"	"00095335"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ-NG-I;arrayCNV"	"DNA"	"Blood"	""
"0000095735"	"00095336"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ-NG-I;arrayCNV"	"DNA"	"Blood"	""
"0000095736"	"00095337"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ-NG-I;arrayCNV"	"DNA"	"Blood"	""
"0000095737"	"00095338"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095738"	"00095339"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095739"	"00095340"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095740"	"00095341"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095741"	"00095342"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095742"	"00095343"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095743"	"00095344"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095744"	"00095345"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095745"	"00095346"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095746"	"00095347"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095747"	"00095348"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095748"	"00095349"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095749"	"00095350"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095750"	"00095351"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095751"	"00095352"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095752"	"00095353"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095753"	"00095354"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095754"	"00095355"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095755"	"00095356"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095756"	"00095357"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000095757"	"00095358"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000095758"	"00095359"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095759"	"00095360"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095760"	"00095361"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095761"	"00095362"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095762"	"00095363"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095763"	"00095364"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095764"	"00095365"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095765"	"00095366"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095769"	"00095370"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095770"	"00095371"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095771"	"00095372"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095772"	"00095373"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095773"	"00095374"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095774"	"00095375"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095775"	"00095376"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095776"	"00095377"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095777"	"00095378"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095778"	"00095379"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095779"	"00095380"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095780"	"00095381"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095781"	"00095382"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095782"	"00095383"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095783"	"00095384"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095784"	"00095385"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095785"	"00095386"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095786"	"00095387"	"1"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2017-01-15 10:43:28"	"arrayCNV;RT-PCR;SEQ"	"DNA;RNA"	"Blood"	""
"0000095787"	"00095388"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095788"	"00095389"	"1"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2017-01-15 10:49:45"	"arrayCNV;RT-PCR;SEQ"	"DNA;RNA"	"Blood"	""
"0000095789"	"00095390"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095790"	"00095391"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095791"	"00095392"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095792"	"00095393"	"1"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2017-01-15 10:50:08"	"arrayCNV;RT-PCR;SEQ"	"DNA;RNA"	"Blood"	""
"0000095793"	"00095394"	"1"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2017-01-15 10:49:17"	"arrayCNV;RT-PCR;SEQ"	"DNA;RNA"	"Blood"	""
"0000095794"	"00095395"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095795"	"00095396"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095796"	"00095397"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000095797"	"00095398"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095798"	"00095399"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095799"	"00095400"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095800"	"00095401"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Saliva"	""
"0000095801"	"00095402"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Saliva"	""
"0000095802"	"00095403"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Saliva"	""
"0000095803"	"00095404"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ-NG-I"	"DNA"	"Saliva"	""
"0000095804"	"00095405"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095805"	"00095406"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095806"	"00095407"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	"00006"	"2020-09-25 08:52:33"	"SEQ;QMPSF"	"DNA"	"Blood"	"Quantitative Multiplex PCR of Short Fluorescent fragments"
"0000095807"	"00095408"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095808"	"00095409"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095809"	"00095410"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000095810"	"00095411"	"0"	"01796"	"01796"	"2017-01-13 22:04:50"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000101630"	"00101207"	"1"	"01796"	"01796"	"2017-03-20 04:58:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000101631"	"00101208"	"1"	"01796"	"01796"	"2017-03-20 07:14:47"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000101632"	"00101209"	"1"	"01796"	"01796"	"2017-03-20 07:27:13"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000101633"	"00101210"	"1"	"01796"	"01796"	"2017-03-20 07:37:30"	""	""	"arrayCNV;SEQ"	"DNA"	"Blood"	""
"0000101820"	"00101372"	"1"	"01796"	"01796"	"2017-03-24 12:17:37"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000101821"	"00101373"	"1"	"01796"	"01796"	"2017-03-24 12:35:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000101822"	"00101374"	"1"	"01796"	"01796"	"2017-03-24 12:43:04"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000109080"	"00108613"	"1"	"01796"	"01796"	"2017-07-26 04:33:08"	"01796"	"2017-07-26 04:43:55"	"SEQ-NG"	"DNA"	"Blood"	""
"0000109081"	"00108614"	"1"	"01796"	"01796"	"2017-07-26 05:57:22"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000134105"	"00133268"	"1"	"02312"	"02312"	"2017-11-15 10:13:06"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000145512"	"00144655"	"1"	"02346"	"02346"	"2017-12-19 10:25:09"	"01796"	"2018-02-27 02:59:25"	"SEQ"	"DNA"	"Blood"	""
"0000145513"	"00144656"	"1"	"02346"	"02346"	"2017-12-19 10:42:03"	"01796"	"2018-02-27 03:06:12"	"SEQ"	"DNA"	"Blood"	""
"0000145515"	"00144658"	"1"	"02346"	"02346"	"2017-12-19 10:52:38"	"01796"	"2018-02-27 03:18:30"	"SEQ"	"DNA"	"Blood"	""
"0000145517"	"00144660"	"1"	"02346"	"02346"	"2017-12-19 11:05:36"	"01796"	"2018-02-27 03:26:44"	"SEQ"	"DNA"	"Blood"	""
"0000145519"	"00144662"	"1"	"02346"	"02346"	"2017-12-19 11:17:26"	"01796"	"2018-02-27 03:37:08"	"SEQ"	"DNA"	"Blood"	""
"0000164645"	"00163781"	"1"	"01796"	"01796"	"2018-04-12 03:59:48"	"01796"	"2018-04-12 04:12:00"	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000164646"	"00163782"	"1"	"01796"	"01796"	"2018-04-12 04:34:00"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000164647"	"00163783"	"1"	"01796"	"01796"	"2018-04-12 04:46:38"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000164648"	"00163784"	"1"	"01796"	"01796"	"2018-04-12 05:01:52"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000293150"	"00291982"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000391312"	"00390071"	"1"	"00006"	"00006"	"2021-11-09 17:45:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000391313"	"00390072"	"1"	"00006"	"00006"	"2021-11-09 17:45:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 105
"{{screeningid}}"	"{{geneid}}"
"0000095719"	"DCC"
"0000095720"	"DCC"
"0000095721"	"DCC"
"0000095722"	"DCC"
"0000095723"	"DCC"
"0000095724"	"DCC"
"0000095725"	"DCC"
"0000095726"	"DCC"
"0000095727"	"DCC"
"0000095728"	"DCC"
"0000095729"	"DCC"
"0000095730"	"DCC"
"0000095731"	"DCC"
"0000095732"	"DCC"
"0000095733"	"DCC"
"0000095734"	"DCC"
"0000095735"	"DCC"
"0000095736"	"DCC"
"0000095737"	"DCC"
"0000095738"	"DCC"
"0000095739"	"DCC"
"0000095740"	"DCC"
"0000095741"	"DCC"
"0000095742"	"DCC"
"0000095743"	"DCC"
"0000095744"	"DCC"
"0000095745"	"DCC"
"0000095746"	"DCC"
"0000095747"	"DCC"
"0000095748"	"DCC"
"0000095749"	"DCC"
"0000095750"	"DCC"
"0000095751"	"DCC"
"0000095752"	"DCC"
"0000095753"	"DCC"
"0000095754"	"DCC"
"0000095755"	"DCC"
"0000095756"	"DCC"
"0000095757"	"DCC"
"0000095758"	"DCC"
"0000095759"	"DCC"
"0000095760"	"DCC"
"0000095761"	"DCC"
"0000095762"	"DCC"
"0000095763"	"DCC"
"0000095764"	"DCC"
"0000095765"	"DCC"
"0000095769"	"DCC"
"0000095770"	"DCC"
"0000095771"	"DCC"
"0000095772"	"DCC"
"0000095773"	"DCC"
"0000095774"	"DCC"
"0000095775"	"DCC"
"0000095776"	"DCC"
"0000095777"	"DCC"
"0000095778"	"DCC"
"0000095779"	"DCC"
"0000095780"	"DCC"
"0000095781"	"DCC"
"0000095782"	"DCC"
"0000095783"	"DCC"
"0000095784"	"DCC"
"0000095785"	"DCC"
"0000095786"	"DCC"
"0000095787"	"DCC"
"0000095788"	"DCC"
"0000095789"	"DCC"
"0000095790"	"DCC"
"0000095791"	"DCC"
"0000095792"	"DCC"
"0000095793"	"DCC"
"0000095794"	"DCC"
"0000095795"	"DCC"
"0000095796"	"DCC"
"0000095797"	"DCC"
"0000095798"	"DCC"
"0000095799"	"DCC"
"0000095800"	"DCC"
"0000095801"	"DCC"
"0000095802"	"DCC"
"0000095803"	"DCC"
"0000095804"	"DCC"
"0000095805"	"DCC"
"0000095806"	"DCC"
"0000095807"	"DCC"
"0000095808"	"DCC"
"0000095809"	"DCC"
"0000095810"	"DCC"
"0000101630"	"DCC"
"0000101631"	"DCC"
"0000101632"	"DCC"
"0000101633"	"DCC"
"0000101820"	"DCC"
"0000101821"	"DCC"
"0000101822"	"DCC"
"0000109080"	"DCC"
"0000109080"	"TUBA1A"
"0000109081"	"DCC"
"0000109081"	"TUBA1A"
"0000145512"	"DCC"
"0000145513"	"DCC"
"0000145515"	"DCC"
"0000145517"	"DCC"
"0000145519"	"DCC"


## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 177
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"	"{{VariantOnGenome/ClinicalClassification}}"	"{{VariantOnGenome/ClinicalClassification/Method}}"
"0000005797"	"3"	"30"	"18"	"50547499"	"50547499"	"subst"	"0"	"00037"	"DCC_000001"	"g.50547499G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.53021129G>T"	""	"likely benign"	""
"0000005798"	"3"	"30"	"18"	"50547640"	"50547640"	"subst"	"0"	"00037"	"DCC_000003"	"g.50547640C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.53021270C>A"	""	"likely benign"	""
"0000013749"	"3"	"30"	"18"	"50547530"	"50547530"	"subst"	"0"	"00037"	"DCC_000002"	"g.50547530T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.53021160="	""	"likely benign"	""
"0000079672"	"0"	"90"	"18"	"48362664"	"78015180"	"del"	"0"	"00006"	"ATP8B1_000025"	"g.48362664_78015180del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"mosaicism, hemizygous in 0.46 cells"	"Somatic"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000154324"	"0"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	""	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154325"	"0"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	""	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154326"	"0"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	""	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154327"	"21"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	""	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154328"	"20"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	""	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154329"	"21"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	""	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154330"	"11"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	"yes"	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154331"	"21"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	""	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154332"	"11"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	""	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154333"	"11"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	""	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154334"	"11"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	""	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154335"	"20"	"90"	"18"	"50451680"	"50451680"	"del"	"0"	"01796"	"DCC_000025"	"g.50451680del"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375281}"	"Germline"	""	""	"0"	""	""	"g.52925310del"	""	"pathogenic"	""
"0000154336"	"0"	"70"	"18"	"50912431"	"50912431"	"subst"	"0"	"01796"	"DCC_000007"	"g.50912431T>G"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375282}\r\n\r\nACMG: PM1, PM2, PP3, PP4 - Likely pathogenic"	"Germline"	""	""	"0"	""	""	"g.53386061T>G"	""	"likely pathogenic"	"ACMG"
"0000154337"	"0"	"70"	"18"	"50912431"	"50912431"	"subst"	"0"	"01796"	"DCC_000007"	"g.50912431T>G"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375282}"	"Germline"	""	""	"0"	""	""	"g.53386061T>G"	""	"likely pathogenic"	""
"0000154338"	"20"	"70"	"18"	"50912431"	"50912431"	"subst"	"0"	"01796"	"DCC_000007"	"g.50912431T>G"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375282}"	"Germline"	""	""	"0"	""	""	"g.53386061T>G"	""	"likely pathogenic"	""
"0000154339"	"20"	"70"	"18"	"50912431"	"50912431"	"subst"	"0"	"01796"	"DCC_000007"	"g.50912431T>G"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375282}"	"Germline"	""	""	"0"	""	""	"g.53386061T>G"	""	"likely pathogenic"	""
"0000154340"	"20"	"70"	"18"	"50912431"	"50912431"	"subst"	"0"	"01796"	"DCC_000007"	"g.50912431T>G"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375282}"	"Germline"	"yes"	""	"0"	""	""	"g.53386061T>G"	""	"likely pathogenic"	""
"0000154341"	"20"	"70"	"18"	"50912431"	"50912431"	"subst"	"0"	"01796"	"DCC_000007"	"g.50912431T>G"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375282}"	"Germline"	""	""	"0"	""	""	"g.53386061T>G"	""	"likely pathogenic"	""
"0000154342"	"20"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:187796}"	"Germline"	""	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154343"	"20"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{PMID:Meneret 2014:24808016}"	""	""	"{CV:187796}"	"Germline"	""	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154344"	"10"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{PMID:Meneret 2014:24808016}"	""	""	"{CV:187796}"	"Germline"	""	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154345"	"10"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:187796}"	"Germline"	"yes"	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154346"	"10"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:187796}"	"Germline"	""	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154347"	"10"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{PMID:Meneret 2014:24808016}"	""	""	"{CV:187796}"	"Germline"	""	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154348"	"10"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:187796}"	"Germline"	""	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154349"	"0"	"70"	"18"	"50912467"	"50912467"	"subst"	"0"	"01796"	"DCC_000026"	"g.50912467G>A"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375283}\r\n\r\nACMG: PM1, PM2, PP3, PP4 - Likely pathogenic"	"Germline"	""	""	"0"	""	""	"g.53386097G>A"	""	"likely pathogenic"	"ACMG"
"0000154350"	"21"	"70"	"18"	"50912467"	"50912467"	"subst"	"0"	"01796"	"DCC_000026"	"g.50912467G>A"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375283}"	"Germline"	""	""	"0"	""	""	"g.53386097G>A"	""	"likely pathogenic"	""
"0000154351"	"21"	"70"	"18"	"50912467"	"50912467"	"subst"	"0"	"01796"	"DCC_000026"	"g.50912467G>A"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375283}"	"Germline"	""	""	"0"	""	""	"g.53386097G>A"	""	"likely pathogenic"	""
"0000154352"	"21"	"70"	"18"	"50912467"	"50912467"	"subst"	"0"	"01796"	"DCC_000026"	"g.50912467G>A"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375283}"	"Germline"	"yes"	""	"0"	""	""	"g.53386097G>A"	""	"likely pathogenic"	""
"0000154353"	"0"	"70"	"18"	"50734116"	"50734116"	"subst"	"0"	"01796"	"DCC_000024"	"g.50734116G>C"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375284}\r\n\r\nACMG: PM1, PM2, PP3, PP4 - Likely pathogenic"	"Germline"	""	""	"0"	""	""	"g.53207746G>C"	""	"likely pathogenic"	"ACMG"
"0000154354"	"11"	"70"	"18"	"50734116"	"50734116"	"subst"	"0"	"01796"	"DCC_000024"	"g.50734116G>C"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375284}"	"Germline"	""	""	"0"	""	""	"g.53207746G>C"	""	"likely pathogenic"	""
"0000154355"	"0"	"70"	"18"	"50866145"	"50866145"	"subst"	"0.00000406478"	"01796"	"DCC_000023"	"g.50866145A>T"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375285}\r\n\r\nACMG: PM1, PP4, BS1, BP4 - Likely benign"	"Germline"	""	"rs199651452"	"0"	""	""	"g.53339775A>T"	""	"likely pathogenic"	"ACMG"
"0000154356"	"11"	"70"	"18"	"50866145"	"50866145"	"subst"	"0.00000406478"	"01796"	"DCC_000023"	"g.50866145A>T"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375285}"	"Germline"	""	"rs199651452"	"0"	""	""	"g.53339775A>T"	""	"likely pathogenic"	""
"0000154357"	"0"	"70"	"18"	"50866178"	"50866178"	"subst"	"0.000130087"	"01796"	"DCC_000022"	"g.50866178G>A"	"ExAC 19 / 121284"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375286}\r\n\r\nACMG: PM1, PP4, BP4 - Unclear significance"	"Germline"	""	""	"0"	""	""	"g.53339808G>A"	""	"likely pathogenic"	"ACMG"
"0000154358"	"11"	"70"	"18"	"50866178"	"50866178"	"subst"	"0.000130087"	"01796"	"DCC_000022"	"g.50866178G>A"	"ExAC 19 / 121284"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375286}"	"Germline"	"yes"	""	"0"	""	""	"g.53339808G>A"	""	"likely pathogenic"	""
"0000154359"	"11"	"70"	"18"	"50866178"	"50866178"	"subst"	"0.000130087"	"01796"	"DCC_000022"	"g.50866178G>A"	"ExAC 19 / 121284"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375286}"	"Germline"	""	""	"0"	""	""	"g.53339808G>A"	""	"likely pathogenic"	""
"0000154360"	"0"	"70"	"18"	"50918246"	"50918246"	"subst"	"0"	"01796"	"DCC_000012"	"g.50918246G>A"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375287}\r\n\r\nACMG: PM1, PM2, PP4, BP4 - Unclear significance"	"Germline"	""	""	"0"	""	""	"g.53391876G>A"	""	"likely pathogenic"	"ACMG"
"0000154361"	"0"	"70"	"18"	"50994293"	"50994293"	"subst"	"0"	"01796"	"DCC_000020"	"g.50994293A>G"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375288}\r\n\r\nACMG: PM1, PM2, PP4, BP4 - Unclear significance"	"Germline"	""	""	"0"	""	""	"g.53467923A>G"	""	"likely pathogenic"	"ACMG"
"0000154362"	"0"	"70"	"18"	"51013178"	"51013178"	"subst"	"0.0000121892"	"01796"	"DCC_000013"	"g.51013178G>A"	"ExAC 2 / 121388"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375288}\r\n\r\nACMG: PM1, PP3, PP4, BS1 - Unclear significance"	"Germline"	""	""	"0"	""	""	"g.53486808G>A"	""	"likely pathogenic"	"ACMG"
"0000154363"	"20"	"70"	"18"	"50994293"	"50994293"	"subst"	"0"	"01796"	"DCC_000020"	"g.50994293A>G"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375288}"	"Germline"	""	""	"0"	""	""	"g.53467923A>G"	""	"likely pathogenic"	""
"0000154364"	"20"	"70"	"18"	"51013178"	"51013178"	"subst"	"0.0000121892"	"01796"	"DCC_000013"	"g.51013178G>A"	"ExAC 2 / 121388"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:375288}"	"Germline"	""	""	"0"	""	""	"g.53486808G>A"	""	"likely pathogenic"	""
"0000154365"	"0"	"70"	"18"	"50278709"	"50278709"	"subst"	"0"	"01796"	"DCC_000005"	"g.50278709C>A"	"0"	"{PMID:Meneret 2014:24808016}"	""	""	"{CV:187794}"	"Germline"	""	""	"0"	""	""	"g.52752339C>A"	""	"likely pathogenic"	""
"0000154366"	"11"	"70"	"18"	"50278709"	"50278709"	"subst"	"0"	"01796"	"DCC_000005"	"g.50278709C>A"	"0"	"{PMID:Meneret 2014:24808016}"	""	""	"{CV:187794}"	"Germline"	"yes"	""	"0"	""	""	"g.52752339C>A"	""	"likely pathogenic"	""
"0000154367"	"21"	"70"	"18"	"50432528"	"50432528"	"subst"	"0.000130217"	"01796"	"DCC_000008"	"g.50432528A>G"	"ExAC 5 / 121228"	"{PMID:Meneret 2014:24808016}"	""	""	"{CV:187789}\r\n\r\nACMG: PM1, PP4, BS1, BP4 - Likely benign"	"Germline"	""	"rs138724679"	"0"	""	""	"g.52906158A>G"	""	"likely pathogenic"	"ACMG"
"0000154368"	"11"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{PMID:Meneret 2014:24808016}, {PMID:Meneret 2015:26011025}"	""	""	"{CV:187796}"	"Germline"	"yes"	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154369"	"21"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{PMID:Meneret 2014:24808016}, {PMID:Meneret 2015:26011025}"	""	""	"{CV:187796}"	"Germline"	"yes"	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154370"	"11"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{PMID:Meneret 2015:26011025}, {DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:187796}"	"Germline"	"yes"	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154371"	"11"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:187796}"	"Germline"	"yes"	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154372"	"11"	"90"	"18"	"50450202"	"50450202"	"subst"	"0"	"01796"	"DCC_000011"	"g.50450202C>T"	"0"	"{DOI:Marsh 2017:10.1038/ng.3794}"	""	""	"{CV:187796}"	"Germline"	"yes"	""	"0"	""	""	"g.52923832C>T"	""	"pathogenic"	""
"0000154376"	"21"	"70"	"18"	"50683873"	"50683873"	"subst"	"0.00284292"	"01796"	"DCC_000015"	"g.50683873G>A"	"ExAC 385 / 121006"	"{PMID:Meneret 2014:24808016}"	""	""	"ACMG: PM1, PP4, BS1, BP4 - Likely benign"	"Germline"	""	"rs141813053"	"0"	""	""	"g.53157503G>A"	"{CV:187790}"	"likely benign"	"ACMG"
"0000154377"	"0"	"70"	"18"	"50912460"	"50912460"	"subst"	"0.00000406388"	"01796"	"DCC_000018"	"g.50912460G>A"	"0"	"{PMID:Meneret 2014:24808016}"	""	"Initially reported as p.(Gly803Asp)"	"{CV:187793}\r\n\r\nACMG: PM1, PM6, PP3, PP4 - Likely pathogenic"	"De novo"	""	""	"0"	""	""	"g.53386090G>A"	""	"likely pathogenic"	"ACMG"
"0000154378"	"0"	"70"	"18"	"50832036"	"50832036"	"subst"	"0.00145979"	"01796"	"DCC_000016"	"g.50832036G>A"	"ExAC 194 / 121316"	"{PMID:Meneret 2014:24808016}"	""	""	"{CV:187791}\r\n\r\nACMG: PM1, PP3, PP4, BS1 - Unclear significance"	"Germline"	""	"rs200099519"	"0"	""	""	"g.53305666G>A"	""	"likely pathogenic"	"ACMG"
"0000154379"	"0"	"70"	"18"	"50848468"	"50848468"	"subst"	"0.00279187"	"01796"	"DCC_000014"	"g.50848468A>G"	"ExAC 372 / 121354"	"{PMID:Djarmati-Westenberger 2011:22006891} {PMID:Meneret 2014:24808016}"	""	""	"{CV:187792}\r\n\r\nACMG: PM1, PP3, PP4, BS1 - Unclear significance"	"Germline"	"?"	"rs35691189"	"0"	""	""	"g.53322098A>G"	""	"likely pathogenic"	"ACMG"
"0000154380"	"0"	"90"	"18"	"50432572"	"50432572"	"dup"	"0"	"01796"	"DCC_000009"	"g.50432572dup"	"0"	"{PMID:Srour 2010:20431009}, {PMID:Sharafaddinzadeh 2008:19127048}"	""	""	"{CV:187795}"	"Germline"	""	""	"0"	""	""	"g.52906202dup"	""	"pathogenic"	""
"0000154381"	"0"	"90"	"18"	"50432572"	"50432572"	"dup"	"0"	"01796"	"DCC_000009"	"g.50432572dup"	"0"	"{PMID:Srour 2010:20431009}, {PMID:Sharafaddinzadeh 2008:19127048}"	""	""	"{CV:187795}"	"Germline"	""	""	"0"	""	""	"g.52906202dup"	""	"pathogenic"	""
"0000154382"	"10"	"90"	"18"	"50432572"	"50432572"	"dup"	"0"	"01796"	"DCC_000009"	"g.50432572dup"	"0"	"{PMID:Srour 2010:20431009}, {PMID:Sharafaddinzadeh 2008:19127048}"	""	""	"{CV:187795}"	"Germline"	"yes"	""	"0"	""	""	"g.52906202dup"	""	"pathogenic"	""
"0000154383"	"10"	"90"	"18"	"50432572"	"50432572"	"dup"	"0"	"01796"	"DCC_000009"	"g.50432572dup"	"0"	"{PMID:Srour 2010:20431009}, {PMID:Sharafaddinzadeh 2008:19127048}"	""	""	"{CV:187795}"	"Germline"	""	""	"0"	""	""	"g.52906202dup"	""	"pathogenic"	""
"0000154384"	"10"	"90"	"18"	"50432572"	"50432572"	"dup"	"0"	"01796"	"DCC_000009"	"g.50432572dup"	"0"	"{PMID:Srour 2010:20431009}, {PMID:Sharafaddinzadeh 2008:19127048}"	""	""	"{CV:187795}"	"Germline"	""	""	"0"	""	""	"g.52906202dup"	""	"pathogenic"	""
"0000154385"	"10"	"90"	"18"	"50432572"	"50432572"	"dup"	"0"	"01796"	"DCC_000009"	"g.50432572dup"	"0"	"{PMID:Srour 2010:20431009}, {PMID:Sharafaddinzadeh 2008:19127048}"	""	""	"{CV:187795}"	"Germline"	""	""	"0"	""	""	"g.52906202dup"	""	"pathogenic"	""
"0000154386"	"10"	"90"	"18"	"50432572"	"50432572"	"dup"	"0"	"01796"	"DCC_000009"	"g.50432572dup"	"0"	"{PMID:Srour 2010:20431009}, {PMID:Sharafaddinzadeh 2008:19127048}"	""	""	"{CV:187795}"	"Germline"	""	""	"0"	""	""	"g.52906202dup"	""	"pathogenic"	""
"0000154387"	"0"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154388"	"11"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154389"	"11"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154390"	"11"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154391"	"21"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154392"	"21"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154393"	"21"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154394"	"21"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	""	"{PMID:Srour 2010:20431009}, {OMIM120470:0001}"	""	""	"not found in 760 unrelated controls; aberrant transcript identified using RT-PCR of cDNA; {CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154395"	"21"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154396"	"21"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}, {OMIM120470:0001}"	""	""	"Aberrant transcript identified using RT-PCR of cDNA. {CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154397"	"21"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154398"	"21"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154399"	"11"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154400"	"11"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}, {OMIM120470:0001}"	""	""	"Aberrant transcript identified using RT-PCR of cDNA. {CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154401"	"11"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}, {OMIM120470:0001}"	""	""	"Aberrant transcript identified using RT-PCR of cDNA. {CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154402"	"21"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154403"	"21"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154404"	"21"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"{CV:187797}"	"Germline"	"yes"	""	"0"	""	""	"g.53063460G>A"	""	"pathogenic"	""
"0000154405"	"0"	"70"	"18"	"50450076"	"50451741"	""	"0"	"01796"	"DCC_000010"	"g.(50432699_50450076)_(50451741_50589674)del"	""	"{PMID:Meneret 2014:24808016}"	""	"698-?_985+?del"	"quantitative multiplex PCR of short fluorescent fragments: 2-fold reduction of exons 4 and 5"	"Germline"	""	""	"0"	""	""	""	"{CV:187801}"	"likely pathogenic"	""
"0000154406"	"21"	"90"	"18"	"50683800"	"50683801"	""	"0"	"01796"	"DCC_000019"	"g.50683800_50683801insAGCC"	"0"	"{PMID:Meneret 2014:24808016}"	""	""	"{CV:187798}"	"Germline"	""	""	"0"	""	""	"g.53157430_53157431insAGCC"	""	"pathogenic"	""
"0000154407"	"0"	"90"	"18"	"50683800"	"50683801"	""	"0"	"01796"	"DCC_000019"	"g.50683800_50683801insAGCC"	"0"	"{PMID:Meneret 2014:24808016}"	""	""	"{CV:187798}"	"Germline"	""	""	"0"	""	""	"g.53157430_53157431insAGCC"	""	"pathogenic"	""
"0000154408"	"0"	"90"	"18"	"50731664"	"50731664"	"del"	"0"	"01796"	"DCC_000021"	"g.50731664del"	"0"	"{PMID:Franz 2015:25813273}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.53205294del"	""	"pathogenic"	""
"0000154409"	"20"	"90"	"18"	"50731664"	"50731664"	"del"	"0"	"01796"	"DCC_000021"	"g.50731664del"	"0"	"{PMID:Franz 2015:25813273}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.53205294del"	""	"pathogenic"	""
"0000154410"	"20"	"90"	"18"	"50731664"	"50731664"	"del"	"0"	"01796"	"DCC_000021"	"g.50731664del"	"0"	"{PMID:Franz 2015:25813273}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.53205294del"	""	"pathogenic"	""
"0000154411"	"20"	"90"	"18"	"50731664"	"50731664"	"del"	"0"	"01796"	"DCC_000021"	"g.50731664del"	"0"	"{PMID:Franz 2015:25813273}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.53205294del"	""	"pathogenic"	""
"0000154412"	"0"	"90"	"18"	"50929201"	"50929205"	""	"0"	"01796"	"DCC_000017"	"g.50929201_50929205dup"	"0"	"{PMID:Meneret 2014:24808016}"	""	"2871_2875dup"	"{CV:187799}"	"Germline"	""	""	"0"	""	""	"g.53402831_53402835dup"	""	"pathogenic"	""
"0000154413"	"0"	"90"	"18"	"50929201"	"50929205"	"dup"	"0"	"01796"	"DCC_000017"	"g.50929201_50929205dup"	"0"	"{PMID:Meneret 2014:24808016}"	""	"2871_2875dup"	"{CV:187799}"	"Germline"	"yes"	""	"0"	""	""	"g.53402831_53402835dup"	""	"pathogenic"	""
"0000154414"	"20"	"90"	"18"	"50929201"	"50929205"	""	"0"	"01796"	"DCC_000017"	"g.50929201_50929205dup"	"0"	"{PMID:Meneret 2014:24808016}"	""	"2871_2875dup"	"{CV:187799}"	"Germline"	""	""	"0"	""	""	"g.53402831_53402835dup"	""	"pathogenic"	""
"0000154415"	"0"	"90"	"18"	"51013266"	"51013267"	"del"	"0"	"01796"	"DCC_000006"	"g.51013266_51013267del"	"0"	"{PMID:Depienne 2011:21242494}"	""	"3835_3836del"	"{CV:187800}"	"Germline"	"?"	""	"0"	""	""	"g.53486896_53486897del"	""	"pathogenic"	""
"0000154416"	"20"	"90"	"18"	"51013266"	"51013267"	"del"	"0"	"01796"	"DCC_000006"	"g.51013266_51013267del"	"0"	"{PMID:Depienne 2011:21242494}; {PMID:Cincotta 2003:14639670}; {PMID:Cincotta 2002:11971104}; {PMID:Cincotta 1996:8647037}; {PMID:Cincotta 1994:7723726}"	""	"3835_3836del"	"{CV:187800}"	"Germline"	""	""	"0"	""	""	"g.53486896_53486897del"	""	"pathogenic"	""
"0000154417"	"20"	"90"	"18"	"51013266"	"51013267"	"del"	"0"	"01796"	"DCC_000006"	"g.51013266_51013267del"	"0"	"{PMID:Depienne 2011:21242494}"	""	"3835_3836del"	"{CV:187800}"	"Germline"	""	""	"0"	""	""	"g.53486896_53486897del"	""	"pathogenic"	""
"0000154418"	"10"	"90"	"18"	"51013266"	"51013267"	"del"	"0"	"01796"	"DCC_000006"	"g.51013266_51013267del"	"0"	"{PMID:Depienne 2011:21242494}"	""	"3835_3836del"	"{CV:187800}"	"Germline"	""	""	"0"	""	""	"g.53486896_53486897del"	""	"pathogenic"	""
"0000164225"	"3"	"70"	"18"	"50848434"	"50848434"	"subst"	"0"	"01796"	"DCC_000027"	"g.50848434C>A"	""	"{PMID:Jamuar et al 2017:28250456}"	""	""	"ACMG: PM1, PM2, PP4, BP4 - Unclear significance"	"Germline"	"?"	""	"0"	""	""	"g.53322064C>A"	""	"likely pathogenic"	"ACMG"
"0000164226"	"0"	"90"	"18"	"49867188"	"49874870"	"del"	"0"	"01796"	"DCC_000028"	"g.49867188_49874870del"	""	""	""	"p.(Pro11Thrfs*15)"	"{CV:430580}"	"Germline"	"yes"	""	"0"	""	""	"g.52340818_52348500del"	""	"pathogenic"	""
"0000164227"	"3"	"90"	"18"	"49867188"	"49874870"	"del"	"0"	"01796"	"DCC_000028"	"g.49867188_49874870del"	""	""	""	"p.(Pro11Thrfs*15)"	"CNV predictions confirmed with digital qPCR"	"Germline"	"yes"	""	"0"	""	""	"g.52340818_52348500del"	""	"pathogenic"	""
"0000164228"	"3"	"90"	"18"	"49867188"	"49874870"	"del"	"0"	"01796"	"DCC_000028"	"g.49867188_49874870del"	""	""	""	"p.(Pro11Thrfs*15)"	"CNV predictions confirmed with digital qPCR"	"Germline"	"yes"	""	"0"	""	""	"g.52340818_52348500del"	""	"pathogenic"	""
"0000164559"	"0"	"90"	"18"	"50450167"	"50450173"	"del"	"0"	"01796"	"DCC_000029"	"g.50450167_50450173del"	""	"{PMID:Jamuar et al 2017:28250456}"	""	""	"{CV:430581}"	"Germline"	"yes"	""	"0"	""	""	"g.52923797_52923803del"	""	"pathogenic"	""
"0000164560"	"0"	"90"	"18"	"50450167"	"50450173"	"del"	"0"	"01796"	"DCC_000029"	"g.50450167_50450173del"	""	"{PMID:Jamuar et al 2017:28250456}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.52923797_52923803del"	""	"pathogenic"	""
"0000164561"	"3"	"90"	"18"	"50450167"	"50450173"	"del"	"0"	"01796"	"DCC_000029"	"g.50450167_50450173del"	""	"{PMID:Jamuar et al 2017:28250456}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.52923797_52923803del"	""	"pathogenic"	""
"0000175144"	"20"	"50"	"18"	"50451671"	"50451671"	"subst"	"0.00000814379"	"01796"	"DCC_000030"	"g.50451671G>A"	""	"{PMID:Jamuar et al. 2017:28250456}"	""	""	"Variant of unknown significance"	"Germline"	""	""	"0"	""	""	"g.52925301G>A"	""	"VUS"	""
"0000175145"	"0"	"50"	"18"	"50451671"	"50451671"	"subst"	"0.00000814379"	"01796"	"DCC_000030"	"g.50451671G>A"	""	""	""	""	"Variant of unknown significance"	"Germline"	""	""	"0"	""	""	"g.52925301G>A"	""	"VUS"	""
"0000223793"	"0"	"70"	"18"	"50512872"	"50512872"	"subst"	"0"	"02312"	"DCC_000031"	"g.50512872G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.52986502G>A"	""	"likely pathogenic"	""
"0000237885"	"21"	"57"	"18"	"50450196"	"50450196"	"subst"	"0"	"01796"	"DCC_000032"	"g.50450196T>C"	"0"	"{PMID:Bierhals 2018:29366874}"	""	""	"ACMG criteria - PM1, PM2, PP1, PP3, PP4\r\n\r\nLikely pathogenic"	"Germline"	"yes"	""	"0"	""	""	"g.52923826T>C"	""	"VUS"	"ACMG"
"0000237887"	"21"	"57"	"18"	"50929186"	"50929193"	"del"	"0"	"02346"	"DCC_000035"	"g.50929186_50929193delinsGG"	""	"{PMID:Bierhals 2018:29366874}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.53402816_53402823delinsGG"	""	"VUS"	""
"0000237888"	"0"	"53"	"18"	"50832035"	"50832035"	"dup"	"0"	"02346"	"DCC_000034"	"g.50832035dup"	""	"{PMID:Bierhals 2018:29366874}"	""	"1999dupC"	""	"De novo"	"-"	""	"0"	""	""	"g.53305665dup"	""	"VUS"	""
"0000237890"	"20"	"57"	"18"	"51053086"	"51053090"	"dup"	"0"	"02346"	"DCC_000036"	"g.51053086_51053090dup"	""	"{PMID:Bierhals 2018:29366874}"	""	"4211_4215dupAAGTG"	""	"Germline"	"yes"	""	"0"	""	""	"g.53526716_53526720dup"	""	"VUS"	""
"0000237892"	"10"	"57"	"18"	"50831998"	"50831998"	"del"	"0"	"02346"	"DCC_000033"	"g.50831998del"	""	"{PMID:Bierhals 2018:29366874}"	""	"1962delT"	""	"Germline"	""	""	"0"	""	""	"g.53305628del"	""	"VUS"	""
"0000249240"	"0"	"10"	"18"	"50937026"	"50937026"	"subst"	"0.450807"	"02325"	"DCC_000045"	"g.50937026A>G"	""	""	""	"DCC(NM_005215.4):c.3130+10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53410656A>G"	""	"benign"	""
"0000267278"	"0"	"10"	"18"	"50936994"	"50936994"	"subst"	"0.450697"	"02325"	"DCC_000044"	"g.50936994T>C"	""	""	""	"DCC(NM_005215.4):c.3108T>C (p.P1036=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53410624T>C"	""	"benign"	""
"0000267279"	"0"	"10"	"18"	"50942653"	"50942653"	"subst"	"0"	"02325"	"DCC_000046"	"g.50942653C>T"	""	""	""	"DCC(NM_005215.4):c.3163+127C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53416283C>T"	""	"benign"	""
"0000267280"	"0"	"10"	"18"	"51056915"	"51056915"	"subst"	"0.166775"	"02325"	"DCC_000048"	"g.51056915G>T"	""	""	""	"DCC(NM_005215.4):c.4255-19G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53530545G>T"	""	"benign"	""
"0000267281"	"0"	"10"	"18"	"50432602"	"50432602"	"subst"	"0.452362"	"02325"	"DCC_000038"	"g.50432602C>G"	""	""	""	"DCC(NM_005215.4):c.601C>G (p.R201G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.52906232C>G"	""	"benign"	""
"0000267282"	"0"	"10"	"18"	"49867224"	"49867224"	"subst"	"0.985337"	"02325"	"DCC_000037"	"g.49867224T>C"	""	""	""	"DCC(NM_005215.4):c.67T>C (p.F23L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.52340854T>C"	""	"benign"	""
"0000267283"	"0"	"10"	"18"	"50450240"	"50450240"	"subst"	"0.365304"	"02325"	"DCC_000039"	"g.50450240T>G"	""	""	""	"DCC(NM_005215.4):c.848+13T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.52923870T>G"	""	"benign"	""
"0000274769"	"0"	"10"	"18"	"50589751"	"50589751"	"subst"	"0.00772995"	"01943"	"DCC_000040"	"g.50589751C>T"	""	""	""	"DCC(NM_005215.3):c.1062C>T (p.V354=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53063381C>T"	""	"benign"	""
"0000274770"	"0"	"50"	"18"	"50734143"	"50734143"	"subst"	"0.000012189"	"01943"	"DCC_000041"	"g.50734143C>T"	""	""	""	"DCC(NM_005215.3):c.1817C>T (p.P606L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53207773C>T"	""	"VUS"	""
"0000274771"	"0"	"30"	"18"	"50832098"	"50832098"	"subst"	"0.00757526"	"01943"	"DCC_000043"	"g.50832098T>C"	""	""	""	"DCC(NM_005215.3):c.2053+9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53305728T>C"	""	"likely benign"	""
"0000325918"	"0"	"50"	"18"	"50832077"	"50832077"	"subst"	"0"	"01804"	"DCC_000042"	"g.50832077T>A"	""	""	""	"DCC(NM_005215.3):c.2041T>A (p.(Tyr681Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53305707T>A"	""	"VUS"	""
"0000368216"	"11"	"99"	"18"	"50432528"	"50432528"	"subst"	"0.000130217"	"01796"	"DCC_000008"	"g.50432528A>G"	""	""	""	""	"Mutations in other CHH genes PROKR2 p.Leu173Arg (maternal)"	"Germline"	""	""	"0"	""	""	"g.52906158A>G"	""	"pathogenic"	""
"0000368217"	"20"	"99"	"18"	"50683873"	"50683873"	"subst"	"0.00284292"	"01796"	"DCC_000015"	"g.50683873G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.53157503G>A"	""	"pathogenic"	""
"0000368218"	"0"	"99"	"18"	"50831969"	"50831969"	"subst"	"0.000219398"	"01796"	"DCC_000049"	"g.50831969C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.53305599C>T"	""	"pathogenic"	""
"0000368219"	"21"	"99"	"18"	"50831982"	"50831982"	"subst"	"0"	"01796"	"DCC_000050"	"g.50831982G>A"	""	""	""	""	"CHD7 p.Tyr1616Cys\r\nSEMA3A p.Arg66Trp"	"Germline"	""	""	"0"	""	""	"g.53305612G>A"	""	"pathogenic"	""
"0000461217"	"0"	"90"	"18"	"50589830"	"50589830"	"subst"	"0"	"01796"	"DCC_000004"	"g.50589830G>A"	"0"	"{PMID:Srour 2010:20431009}"	""	""	"RT-PCR: detection of aberrant transcript (LCL mRNA). Immunoblot: identification of truncated mutant protein (COS7 transfected with pcDNA4-DCC mutant). Netrin binding studies: significant  Netrin binding reduction (COS7 transfected with pcDNA4-DCC mutant)"	"In vitro (cloned)"	""	""	"0"	""	""	"g.53063460G>A"	""	"NA"	""
"0000461218"	"0"	"50"	"18"	"50450196"	"50450196"	"subst"	"0"	"01796"	"DCC_000032"	"g.50450196T>C"	"0"	"{PMID:Bierhals 2018:29366874}"	""	""	"CADD - 26.7, REVEL - 0.902, M-CAP - 0.624, MPC - 1.00"	"In silico"	""	""	"0"	""	""	"g.52923826T>C"	""	"NA"	""
"0000461219"	"0"	"90"	"18"	"50432528"	"50432528"	"subst"	"0.000130217"	"01796"	"DCC_000008"	"g.50432528A>G"	""	""	""	""	"impaired NTN1 binding, significantly decreased EGR1-promoter activation, impaired cytoskeletal and membrane rearrangement, CADD = D, GERP = 5.71"	"In vitro (cloned)"	""	""	"0"	""	""	"g.52906158A>G"	""	"NA"	""
"0000461220"	"0"	"90"	"18"	"50683873"	"50683873"	"subst"	"0.00284292"	"01796"	"DCC_000015"	"g.50683873G>A"	""	""	""	""	"significantly decreased EGR1-promoter activation, impaired cytoskeletal and membrane rearrangement, CADD = D, GERP = 5.4"	"In vitro (cloned)"	""	""	"0"	""	""	"g.53157503G>A"	""	"NA"	""
"0000461221"	"0"	"90"	"18"	"50831969"	"50831969"	"subst"	"0.000219398"	"01796"	"DCC_000049"	"g.50831969C>T"	""	""	""	""	"significantly decreased EGR1-promoter activation, impaired cytoskeletal and membrane rearrangemen, CADD = D, GERP = 5.45"	"In vitro (cloned)"	""	""	"0"	""	""	"g.53305599C>T"	""	"NA"	""
"0000461222"	"0"	"90"	"18"	"50831982"	"50831982"	"subst"	"0"	"01796"	"DCC_000050"	"g.50831982G>A"	""	""	""	""	"significantly decreased EGR1-promoter activation, impaired cytoskeletal and membrane rearrangement, CADD = D, GERP = 4.54"	"In vitro (cloned)"	""	""	"0"	""	""	"g.53305612G>A"	""	"NA"	""
"0000565073"	"0"	"30"	"18"	"49867199"	"49867199"	"subst"	"0"	"01943"	"DCC_000051"	"g.49867199T>A"	""	""	""	"DCC(NM_005215.3):c.42T>A (p.A14=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.52340829T>A"	""	"likely benign"	""
"0000565075"	"0"	"30"	"18"	"50432493"	"50432493"	"subst"	"0"	"01943"	"DCC_000053"	"g.50432493T>A"	""	""	""	"DCC(NM_005215.3):c.492T>A (p.I164=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.52906123T>A"	""	"likely benign"	""
"0000565076"	"0"	"30"	"18"	"50432679"	"50432679"	"subst"	"0"	"01943"	"DCC_000054"	"g.50432679A>T"	""	""	""	"DCC(NM_005215.3):c.678A>T (p.A226=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.52906309A>T"	""	"likely benign"	""
"0000565077"	"0"	"50"	"18"	"50683873"	"50683873"	"subst"	"0.00284292"	"01943"	"DCC_000015"	"g.50683873G>A"	""	""	""	"DCC(NM_005215.3):c.1409G>A (p.G470D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53157503G>A"	""	"VUS"	""
"0000565078"	"0"	"30"	"18"	"50705481"	"50705481"	"subst"	"0.0000122153"	"01804"	"DCC_000055"	"g.50705481C>T"	""	""	""	"DCC(NM_005215.3):c.1568C>T (p.(Pro523Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53179111C>T"	""	"likely benign"	""
"0000565079"	"0"	"50"	"18"	"50734134"	"50734134"	"subst"	"0.00000812592"	"01943"	"DCC_000056"	"g.50734134G>A"	""	""	""	"DCC(NM_005215.3):c.1808G>A (p.R603H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53207764G>A"	""	"VUS"	""
"0000565080"	"0"	"30"	"18"	"50734186"	"50734186"	"subst"	"0.000313044"	"01943"	"DCC_000057"	"g.50734186C>T"	""	""	""	"DCC(NM_005215.3):c.1860C>T (p.D620=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53207816C>T"	""	"likely benign"	""
"0000565081"	"0"	"50"	"18"	"50832095"	"50832095"	"subst"	"0"	"01943"	"DCC_000058"	"g.50832095T>C"	""	""	""	"DCC(NM_005215.3):c.2053+6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53305725T>C"	""	"VUS"	""
"0000565082"	"0"	"30"	"18"	"50848468"	"50848468"	"subst"	"0.00279187"	"02325"	"DCC_000014"	"g.50848468A>G"	""	""	""	"DCC(NM_005215.4):c.2105A>G (p.N702S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53322098A>G"	""	"likely benign"	""
"0000565084"	"0"	"10"	"18"	"50912515"	"50912515"	"subst"	"0.00120778"	"01943"	"DCC_000060"	"g.50912515G>A"	""	""	""	"DCC(NM_005215.3):c.2455+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53386145G>A"	""	"benign"	""
"0000565085"	"0"	"30"	"18"	"50918077"	"50918077"	"subst"	"0.000353759"	"01943"	"DCC_000061"	"g.50918077G>C"	""	""	""	"DCC(NM_005215.3):c.2508G>C (p.S836=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53391707G>C"	""	"likely benign"	""
"0000565086"	"0"	"50"	"18"	"50918205"	"50918205"	"subst"	"0.00001625"	"01943"	"DCC_000062"	"g.50918205G>A"	""	""	""	"DCC(NM_005215.3):c.2636G>A (p.R879Q), DCC(NM_005215.4):c.2636G>A (p.R879Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53391835G>A"	""	"VUS"	""
"0000565087"	"0"	"30"	"18"	"50923713"	"50923713"	"subst"	"0.00172258"	"01943"	"DCC_000063"	"g.50923713A>G"	""	""	""	"DCC(NM_005215.3):c.2724A>G (p.T908=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53397343A>G"	""	"likely benign"	""
"0000565089"	"0"	"30"	"18"	"50976962"	"50976962"	"subst"	"0.00000406237"	"01804"	"DCC_000065"	"g.50976962G>A"	""	""	""	"DCC(NM_005215.3):c.3322G>A (p.(Val1108Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53450592G>A"	""	"likely benign"	""
"0000565090"	"0"	"50"	"18"	"50985787"	"50985787"	"subst"	"0.0000772402"	"01943"	"DCC_000066"	"g.50985787A>G"	""	""	""	"DCC(NM_005215.3):c.3578A>G (p.Q1193R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53459417A>G"	""	"VUS"	""
"0000565091"	"0"	"30"	"18"	"50994265"	"50994265"	"subst"	"0.0000731785"	"01943"	"DCC_000067"	"g.50994265T>C"	""	""	""	"DCC(NM_005215.3):c.3621T>C (p.G1207=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53467895T>C"	""	"likely benign"	""
"0000565092"	"0"	"50"	"18"	"50994347"	"50994347"	"subst"	"0"	"01943"	"DCC_000068"	"g.50994347A>C"	""	""	""	"DCC(NM_005215.3):c.3703A>C (p.M1235L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53467977A>C"	""	"VUS"	""
"0000565093"	"0"	"50"	"18"	"51025821"	"51025821"	"subst"	"0.0000203047"	"01943"	"DCC_000069"	"g.51025821C>T"	""	""	""	"DCC(NM_005215.3):c.4052C>T (p.P1351L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53499451C>T"	""	"VUS"	""
"0000565094"	"0"	"30"	"18"	"51025884"	"51025888"	"dup"	"0"	"01943"	"DCC_000070"	"g.51025884_51025888dup"	""	""	""	"DCC(NM_005215.3):c.4111_4111+1insGTAAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53499514_53499518dup"	""	"likely benign"	""
"0000617206"	"0"	"50"	"18"	"50832017"	"50832017"	"subst"	"0"	"02327"	"DCC_000072"	"g.50832017C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53305647C>T"	""	"VUS"	""
"0000623867"	"0"	"30"	"18"	"50734039"	"50734039"	"subst"	"0"	"01943"	"DCC_000071"	"g.50734039A>G"	""	""	""	"DCC(NM_005215.3):c.1723-10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53207669A>G"	""	"likely benign"	""
"0000623868"	"0"	"30"	"18"	"50848414"	"50848414"	"subst"	"0.0000934686"	"02325"	"DCC_000073"	"g.50848414T>C"	""	""	""	"DCC(NM_005215.4):c.2054-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53322044T>C"	""	"likely benign"	""
"0000623869"	"0"	"50"	"18"	"50976989"	"50976989"	"subst"	"0"	"02325"	"DCC_000074"	"g.50976989G>A"	""	""	""	"DCC(NM_005215.4):c.3349G>A (p.V1117M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53450619G>A"	""	"VUS"	""
"0000623870"	"0"	"50"	"18"	"51025785"	"51025785"	"subst"	"0.00000406128"	"02325"	"DCC_000075"	"g.51025785C>T"	""	""	""	"DCC(NM_005215.4):c.4016C>T (p.T1339I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53499415C>T"	""	"VUS"	""
"0000649839"	"1"	"50"	"18"	"50848468"	"50848468"	"subst"	"0.00279187"	"03575"	"DCC_000014"	"g.50848468A>G"	"3/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 heterozygous, no homozygous; {DB:CLININrs35691189}"	"Germline"	""	"rs35691189"	"0"	""	""	"g.53322098A>G"	""	"VUS"	""
"0000658408"	"0"	"50"	"18"	"50432528"	"50432528"	"subst"	"0.000130217"	"01943"	"DCC_000008"	"g.50432528A>G"	""	""	""	"DCC(NM_005215.3):c.527A>G (p.N176S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.52906158A>G"	""	"VUS"	""
"0000658409"	"0"	"50"	"18"	"50705370"	"50705370"	"subst"	"0.000577039"	"01943"	"DCC_000076"	"g.50705370A>T"	""	""	""	"DCC(NM_005215.3):c.1457A>T (p.Q486L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53179000A>T"	""	"VUS"	""
"0000658410"	"0"	"50"	"18"	"50942514"	"50942514"	"subst"	"0.000130138"	"01943"	"DCC_000077"	"g.50942514G>T"	""	""	""	"DCC(NM_005215.3):c.3151G>T (p.A1051S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53416144G>T"	""	"VUS"	""
"0000658411"	"0"	"50"	"18"	"50961517"	"50961517"	"subst"	"0.000109693"	"01943"	"DCC_000078"	"g.50961517G>A"	""	""	""	"DCC(NM_005215.3):c.3167G>A (p.R1056H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53435147G>A"	""	"VUS"	""
"0000681174"	"0"	"30"	"18"	"50683781"	"50683781"	"subst"	"0.0000162467"	"01943"	"DCC_000079"	"g.50683781G>A"	""	""	""	"DCC(NM_005215.3):c.1317G>A (p.L439=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000681175"	"0"	"30"	"18"	"50734144"	"50734144"	"subst"	"0.000333182"	"01943"	"DCC_000080"	"g.50734144G>A"	""	""	""	"DCC(NM_005215.3):c.1818G>A (p.P606=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726927"	"0"	"70"	"18"	"50432563"	"50432563"	"subst"	"0"	"02327"	"DCC_000081"	"g.50432563C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000726928"	"0"	"50"	"18"	"50918136"	"50918136"	"subst"	"0"	"02325"	"DCC_000082"	"g.50918136C>T"	""	""	""	"DCC(NM_005215.4):c.2567C>T (p.T856I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726929"	"0"	"50"	"18"	"50918205"	"50918205"	"subst"	"0.00001625"	"02325"	"DCC_000062"	"g.50918205G>A"	""	""	""	"DCC(NM_005215.3):c.2636G>A (p.R879Q), DCC(NM_005215.4):c.2636G>A (p.R879Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726930"	"0"	"90"	"18"	"50918223"	"50918223"	"subst"	"0"	"02329"	"DCC_000083"	"g.50918223G>A"	""	""	""	"DCC(NM_005215.4):c.2654G>A (p.W885*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000808528"	"0"	"50"	"18"	"50985814"	"50985814"	"subst"	"0.00000815069"	"02325"	"DCC_000084"	"g.50985814G>A"	""	""	""	"DCC(NM_005215.4):c.3605G>A (p.S1202N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808529"	"0"	"50"	"18"	"51013310"	"51013310"	"subst"	"0.0000690692"	"01943"	"DCC_000085"	"g.51013310G>A"	""	""	""	"DCC(NM_005215.3):c.3880G>A (p.G1294R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808530"	"0"	"90"	"18"	"51025755"	"51025770"	"dup"	"0"	"02325"	"DCC_000086"	"g.51025755_51025770dup"	""	""	""	"DCC(NM_005215.4):c.3986_4001dupGAACCATCCCCACAGC (p.C1335Nfs*18)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000821060"	"11"	"90"	"18"	"49867159"	"49867159"	"subst"	"0"	"00006"	"DCC_000087"	"g.49867159T>C"	""	"{PMID:Nissenkorn 2021:33413009}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.52340789T>C"	""	"pathogenic (dominant)"	""
"0000821061"	"0"	"90"	"18"	"49867159"	"49867159"	"subst"	"0"	"00006"	"DCC_000087"	"g.49867159T>C"	""	"{PMID:Nissenkorn 2021:33413009}"	""	""	""	"Germline/De novo (untested)"	"yes"	""	"0"	""	""	"g.52340789T>C"	""	"pathogenic (dominant)"	""
"0000865719"	"0"	"30"	"18"	"50731604"	"50731604"	"subst"	"0.0000853062"	"01943"	"DCC_000088"	"g.50731604T>C"	""	""	""	"DCC(NM_005215.3):c.1592T>C (p.V531A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865720"	"0"	"90"	"18"	"50923734"	"50923735"	"del"	"0"	"02325"	"DCC_000089"	"g.50923734_50923735del"	""	""	""	"DCC(NM_005215.4):c.2745_2746delGT (p.M915Ifs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894600"	"0"	"90"	"18"	"50278694"	"50278694"	"subst"	"0"	"02327"	"DCC_000090"	"g.50278694T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894601"	"0"	"50"	"18"	"50592432"	"50592432"	"subst"	"0.000252106"	"02325"	"DCC_000091"	"g.50592432G>A"	""	""	""	"DCC(NM_005215.4):c.1157G>A (p.R386Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000894602"	"0"	"50"	"18"	"50976954"	"50976954"	"subst"	"0.0000771868"	"02325"	"DCC_000092"	"g.50976954C>T"	""	""	""	"DCC(NM_005215.4):c.3314C>T (p.T1105I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes DCC
## Count = 177
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein/Domain}}"
"0000005797"	"00000628"	"30"	"986"	"-42176"	"986"	"-42176"	"c.986-42176G>T"	"r.(?)"	"p.(?)"	"5i"	""
"0000005798"	"00000628"	"30"	"986"	"-42035"	"986"	"-42035"	"c.986-42035C>A"	"r.(?)"	"p.(=)"	"5i"	""
"0000013749"	"00000628"	"30"	"986"	"-42145"	"986"	"-42145"	"c.986-42145T>G"	"r.(?)"	"p.(=)"	"5i"	""
"0000079672"	"00000628"	"00"	"-1504494"	"0"	"8388607"	"0"	"c.-1504494_*26958157del"	"r.0?"	"p.0?"	""	""
"0000154324"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154325"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154326"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154327"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154328"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154329"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154330"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154331"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154332"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154333"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154334"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154335"	"00000628"	"90"	"925"	"0"	"925"	"0"	"c.925del"	"r.(?)"	"p.(Thr309Profs*26)"	"5"	"IgC2-3"
"0000154336"	"00000628"	"70"	"2378"	"0"	"2378"	"0"	"c.2378T>G"	"r.(?)"	"p.(Val793Gly)"	"16"	"FN3-4"
"0000154337"	"00000628"	"70"	"2378"	"0"	"2378"	"0"	"c.2378T>G"	"r.(?)"	"p.(Val793Gly)"	"16"	"FN3-4"
"0000154338"	"00000628"	"70"	"2378"	"0"	"2378"	"0"	"c.2378T>G"	"r.(?)"	"p.(Val793Gly)"	"16"	"FN3-4"
"0000154339"	"00000628"	"70"	"2378"	"0"	"2378"	"0"	"c.2378T>G"	"r.(?)"	"p.(Val793Gly)"	"16"	"FN3-4"
"0000154340"	"00000628"	"70"	"2378"	"0"	"2378"	"0"	"c.2378T>G"	"r.(?)"	"p.(Val793Gly)"	"16"	"FN3-4"
"0000154341"	"00000628"	"70"	"2378"	"0"	"2378"	"0"	"c.2378T>G"	"r.(?)"	"p.(Val793Gly)"	"16"	"FN3-4"
"0000154342"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154343"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154344"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154345"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154346"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154347"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154348"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154349"	"00000628"	"70"	"2414"	"0"	"2414"	"0"	"c.2414G>A"	"r.(?)"	"p.(Gly805Glu)"	"16"	"FN3-4"
"0000154350"	"00000628"	"70"	"2414"	"0"	"2414"	"0"	"c.2414G>A"	"r.(?)"	"p.(Gly805Glu)"	"16"	"FN3-4"
"0000154351"	"00000628"	"70"	"2414"	"0"	"2414"	"0"	"c.2414G>A"	"r.(?)"	"p.(Gly805Glu)"	"16"	"FN3-4"
"0000154352"	"00000628"	"70"	"2414"	"0"	"2414"	"0"	"c.2414G>A"	"r.(?)"	"p.(Gly805Glu)"	"16"	"FN3-4"
"0000154353"	"00000628"	"70"	"1790"	"0"	"1790"	"0"	"c.1790G>C"	"r.(?)"	"p.(Arg597Pro)"	"11"	"FN3-2"
"0000154354"	"00000628"	"70"	"1790"	"0"	"1790"	"0"	"c.1790G>C"	"r.(?)"	"p.(Arg597Pro)"	"11"	"FN3-2"
"0000154355"	"00000628"	"70"	"2227"	"0"	"2227"	"0"	"c.2227A>T"	"r.(?)"	"p.(Met743Leu)"	"15"	"FN3-4"
"0000154356"	"00000628"	"70"	"2227"	"0"	"2227"	"0"	"c.2227A>T"	"r.(?)"	"p.(Met743Leu)"	"15"	"FN3-4"
"0000154357"	"00000628"	"70"	"2260"	"0"	"2260"	"0"	"c.2260G>A"	"r.(?)"	"p.(Val754Met)"	"15"	"FN3-4"
"0000154358"	"00000628"	"70"	"2260"	"0"	"2260"	"0"	"c.2260G>A"	"r.(?)"	"p.(Val754Met)"	"15"	"FN3-4"
"0000154359"	"00000628"	"70"	"2260"	"0"	"2260"	"0"	"c.2260G>A"	"r.(?)"	"p.(Val754Met)"	"15"	"FN3-4"
"0000154360"	"00000628"	"70"	"2677"	"0"	"2677"	"0"	"c.2677G>A"	"r.(?)"	"p.(Ala893Thr)"	"17"	"FN3-5"
"0000154361"	"00000628"	"70"	"3649"	"0"	"3649"	"0"	"c.3649A>G"	"r.(?)"	"p.(Met1217Val)"	"25"	"P1-P2 linker"
"0000154362"	"00000628"	"70"	"3748"	"0"	"3748"	"0"	"c.3748G>A"	"r.(?)"	"p.(Ala1250Thr)"	"26"	"P1-P2 linker"
"0000154363"	"00000628"	"70"	"3649"	"0"	"3649"	"0"	"c.3649A>G"	"r.(?)"	"p.(Met1217Val)"	"25"	"P1-P2 linker"
"0000154364"	"00000628"	"70"	"3748"	"0"	"3748"	"0"	"c.3748G>A"	"r.(?)"	"p.(Ala1250Thr)"	"26"	"P1-P2 linker"
"0000154365"	"00000628"	"70"	"377"	"0"	"377"	"0"	"c.377C>A"	"r.(?)"	"p.(Ser126*)"	"2"	"IgC2-1"
"0000154366"	"00000628"	"70"	"377"	"0"	"377"	"0"	"c.377C>A"	"r.(?)"	"p.(Ser126*)"	"2"	"IgC2-1"
"0000154367"	"00000628"	"70"	"527"	"0"	"527"	"0"	"c.527A>G"	"r.(?)"	"p.(Asn176Ser)"	"3"	"IgC2-2"
"0000154368"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154369"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154370"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154371"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154372"	"00000628"	"90"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275*)"	"4"	"IgC2-3"
"0000154376"	"00000628"	"70"	"1409"	"0"	"1409"	"0"	"c.1409G>A"	"r.(?)"	"p.(Gly470Val)"	"8"	"FN3-1"
"0000154377"	"00000628"	"70"	"2407"	"0"	"2407"	"0"	"c.2407G>A"	"r.(?)"	"p.(Gly803Arg)"	"16"	"FN3-4"
"0000154378"	"00000628"	"70"	"2000"	"0"	"2000"	"0"	"c.2000G>A"	"r.(?)"	"p.(Arg667His)"	"13"	"FN3-3"
"0000154379"	"00000628"	"70"	"2105"	"0"	"2105"	"0"	"c.2105A>G"	"r.(?)"	"p.(Asn702Ser)"	"14"	"FN3-3"
"0000154380"	"00000628"	"90"	"571"	"0"	"571"	"0"	"c.571dup"	"r.(?)"	"p.(Val191Glyfs*35)"	"3"	"IgC2-2"
"0000154381"	"00000628"	"90"	"571"	"0"	"571"	"0"	"c.571dup"	"r.(?)"	"p.(Val191Glyfs*35)"	"3"	"IgC2-2"
"0000154382"	"00000628"	"90"	"571"	"0"	"571"	"0"	"c.571dup"	"r.(?)"	"p.(Val191Glyfs*35)"	"3"	"IgC2-2"
"0000154383"	"00000628"	"90"	"571"	"0"	"571"	"0"	"c.571dup"	"r.(?)"	"p.(Val191Glyfs*35)"	"3"	"IgC2-2"
"0000154384"	"00000628"	"90"	"571"	"0"	"571"	"0"	"c.571dup"	"r.(?)"	"p.(Val191Glyfs*35)"	"3"	"IgC2-2"
"0000154385"	"00000628"	"90"	"571"	"0"	"571"	"0"	"c.571dup"	"r.(?)"	"p.(Val191Glyfs*35)"	"3"	"IgC2-2"
"0000154386"	"00000628"	"90"	"571"	"0"	"571"	"0"	"c.571dup"	"r.(?)"	"p.(Val191Glyfs*35)"	"3"	"IgC2-2"
"0000154387"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154388"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154389"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154390"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154391"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154392"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154393"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154394"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.986_1140del"	"p.Val329Glyfs*15"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154395"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154396"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154397"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154398"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154399"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154400"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154401"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154402"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154403"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154404"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.(986_1140del)"	"p.(Val329Glyfs*15)"	"6i"	"IgC2-3-IgC2-4 linker"
"0000154405"	"00000628"	"70"	"698"	"-1"	"985"	"1"	"c.(697+1_698-1)_(985+1_986-1)del"	"r.?"	"p.(Asp233_Leu328del)"	"3i_5i"	"IgC2-3"
"0000154406"	"00000628"	"90"	"1336"	"0"	"1337"	"0"	"c.1336_1337insAGCC"	"r.(?)"	"p.(Arg446Glnfs*27)"	"8"	"FN3-1"
"0000154407"	"00000628"	"90"	"1336"	"0"	"1337"	"0"	"c.1336_1337insAGCC"	"r.(?)"	"p.(Arg446Glnfs*27)"	"8"	"FN3-1"
"0000154408"	"00000628"	"90"	"1652"	"0"	"1652"	"0"	"c.1652del"	"r.(?)"	"p.(Pro551Leufs*26)"	"10"	"FN3-2"
"0000154409"	"00000628"	"90"	"1652"	"0"	"1652"	"0"	"c.1652del"	"r.(?)"	"p.(Pro551Leufs*26)"	"10"	"FN3-2"
"0000154410"	"00000628"	"90"	"1652"	"0"	"1652"	"0"	"c.1652del"	"r.(?)"	"p.(Pro551Leufs*26)"	"10"	"FN3-2"
"0000154411"	"00000628"	"90"	"1652"	"0"	"1652"	"0"	"c.1652del"	"r.(?)"	"p.(Pro551Leufs*26)"	"10"	"FN3-2"
"0000154412"	"00000628"	"90"	"2873"	"0"	"2877"	"0"	"c.2873_2877dup"	"r.(?)"	"p.(Pro960Glyfs*8)"	"19"	"FN3-6"
"0000154413"	"00000628"	"90"	"2873"	"0"	"2877"	"0"	"c.2873_2877dup"	"r.(?)"	"p.(Pro960Glyfs*8)"	"19"	"FN3-6"
"0000154414"	"00000628"	"90"	"2873"	"0"	"2877"	"0"	"c.2873_2877dup"	"r.(?)"	"p.(Pro960Glyfs*8)"	"19"	"FN3-6"
"0000154415"	"00000628"	"90"	"3836"	"0"	"3837"	"0"	"c.3836_3837del"	"r.(?)"	"p.(Leu1279Profs*24)"	"26"	"P1-P2 linker"
"0000154416"	"00000628"	"90"	"3836"	"0"	"3837"	"0"	"c.3836_3837del"	"r.(?)"	"p.(Leu1279Profs*24)"	"26"	"P1-P2 linker"
"0000154417"	"00000628"	"90"	"3836"	"0"	"3837"	"0"	"c.3836_3837del"	"r.(?)"	"p.(Leu1279Profs*24)"	"26"	"P1-P2 linker"
"0000154418"	"00000628"	"90"	"3836"	"0"	"3837"	"0"	"c.3836_3837del"	"r.(?)"	"p.(Leu1279Profs*24)"	"26"	"P1-P2 linker"
"0000164225"	"00000628"	"70"	"2071"	"0"	"2071"	"0"	"c.2071C>A"	"r.(?)"	"p.(Gln691Lys)"	"14"	"FN3-3"
"0000164226"	"00000628"	"90"	"31"	"0"	"91"	"7622"	"c.31_91+7622del"	"r.spl?"	"p.?"	"1"	""
"0000164227"	"00000628"	"90"	"31"	"0"	"91"	"7622"	"c.31_91+7622del"	"r.spl?"	"p.?"	"1_1i"	""
"0000164228"	"00000628"	"90"	"31"	"0"	"91"	"7622"	"c.31_91+7622del"	"r.spl?"	"p.?"	"1"	""
"0000164559"	"00000628"	"90"	"788"	"0"	"794"	"0"	"c.788_794del"	"r.(?)"	"p.(Val263Alafs*36)"	"4"	"IgC2-3"
"0000164560"	"00000628"	"90"	"788"	"0"	"794"	"0"	"c.788_794del"	"r.(?)"	"p.(Val263Alafs*36)"	"4"	"IgC2-3"
"0000164561"	"00000628"	"90"	"788"	"0"	"794"	"0"	"c.788_794del"	"r.(?)"	"p.(Val263Alafs*36)"	"4"	"IgC2-3"
"0000175144"	"00000628"	"50"	"916"	"0"	"916"	"0"	"c.916G>A"	"r.(?)"	"p.(Gly306Arg)"	"5"	"IgC2-3"
"0000175145"	"00000628"	"50"	"916"	"0"	"916"	"0"	"c.916G>A"	"r.(?)"	"p.(Gly306Arg)"	"5"	"IgC2-3"
"0000223793"	"00000628"	"70"	"985"	"61132"	"985"	"61132"	"c.985+61132G>A"	"r.(?)"	"p.(=)"	"5i"	""
"0000237885"	"00000628"	"57"	"817"	"0"	"817"	"0"	"c.817T>C"	"r.(?)"	"p.(Trp273Arg)"	"4"	"IgC2-3"
"0000237887"	"00000628"	"57"	"2858"	"0"	"2865"	"0"	"c.2858_2865delinsGG"	"r.(?)"	"p.(Val953_Thr955delinsGly)"	"19"	"FN3-6"
"0000237888"	"00000628"	"57"	"1999"	"0"	"1999"	"0"	"c.1999dup"	"r.(?)"	"p.(Arg667Profs*4)"	"13"	"FN3-2"
"0000237890"	"00000628"	"57"	"4211"	"0"	"4215"	"0"	"c.4211_4215dup"	"r.(?)"	"p.(Ser1406Lysfs*22)"	"28"	""
"0000237892"	"00000628"	"57"	"1962"	"0"	"1962"	"0"	"c.1962del"	"r.(?)"	"p.(Phe654Leufs*46)"	"13"	"FN3-3"
"0000249240"	"00000628"	"10"	"3130"	"10"	"3130"	"10"	"c.3130+10A>G"	"r.(=)"	"p.(=)"	""	""
"0000267278"	"00000628"	"10"	"3108"	"0"	"3108"	"0"	"c.3108T>C"	"r.(?)"	"p.(Pro1036=)"	""	""
"0000267279"	"00000628"	"10"	"3163"	"127"	"3163"	"127"	"c.3163+127C>T"	"r.(=)"	"p.(=)"	""	""
"0000267280"	"00000628"	"10"	"4255"	"-19"	"4255"	"-19"	"c.4255-19G>T"	"r.(=)"	"p.(=)"	""	""
"0000267281"	"00000628"	"10"	"601"	"0"	"601"	"0"	"c.601C>G"	"r.(?)"	"p.(Arg201Gly)"	""	""
"0000267282"	"00000628"	"10"	"67"	"0"	"67"	"0"	"c.67T>C"	"r.(?)"	"p.(Phe23Leu)"	""	""
"0000267283"	"00000628"	"10"	"848"	"13"	"848"	"13"	"c.848+13T>G"	"r.(=)"	"p.(=)"	""	""
"0000274769"	"00000628"	"10"	"1062"	"0"	"1062"	"0"	"c.1062C>T"	"r.(?)"	"p.(Val354=)"	""	""
"0000274770"	"00000628"	"50"	"1817"	"0"	"1817"	"0"	"c.1817C>T"	"r.(?)"	"p.(Pro606Leu)"	""	""
"0000274771"	"00000628"	"30"	"2053"	"9"	"2053"	"9"	"c.2053+9T>C"	"r.(=)"	"p.(=)"	""	""
"0000325918"	"00000628"	"50"	"2041"	"0"	"2041"	"0"	"c.2041T>A"	"r.(?)"	"p.(Tyr681Asn)"	""	""
"0000368216"	"00000628"	"99"	"527"	"0"	"527"	"0"	"c.527A>G"	"r.(?)"	"p.(Asn176Ser)"	""	""
"0000368217"	"00000628"	"99"	"1409"	"0"	"1409"	"0"	"c.1409G>A"	"r.(?)"	"p.(Gly470Asp)"	""	""
"0000368218"	"00000628"	"99"	"1933"	"0"	"1933"	"0"	"c.1933C>T"	"r.(?)"	"p.(Pro645Ser)"	""	""
"0000368219"	"00000628"	"99"	"1946"	"0"	"1946"	"0"	"c.1946G>A"	"r.(?)"	"p.(Gly649Glu)"	""	""
"0000461217"	"00000628"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.spl?"	"p.Val329Glyfs*15"	"6i"	""
"0000461218"	"00000628"	"50"	"817"	"0"	"817"	"0"	"c.817T>C"	"r.(?)"	"p.Trp273Arg"	"4"	""
"0000461219"	"00000628"	"90"	"527"	"0"	"527"	"0"	"c.527A>G"	"r.(?)"	"p.Asn176Ser"	""	""
"0000461220"	"00000628"	"90"	"1409"	"0"	"1409"	"0"	"c.1409G>A"	"r.(?)"	"p.Gly470Asp"	""	""
"0000461221"	"00000628"	"90"	"1933"	"0"	"1933"	"0"	"c.1933C>T"	"r.(?)"	"p.Pro645Ser"	""	""
"0000461222"	"00000628"	"90"	"1946"	"0"	"1946"	"0"	"c.1946G>A"	"r.(?)"	"p.Gly649Glu"	""	""
"0000565073"	"00000628"	"30"	"42"	"0"	"42"	"0"	"c.42T>A"	"r.(?)"	"p.(Ala14=)"	""	""
"0000565075"	"00000628"	"30"	"492"	"0"	"492"	"0"	"c.492T>A"	"r.(?)"	"p.(Ile164=)"	""	""
"0000565076"	"00000628"	"30"	"678"	"0"	"678"	"0"	"c.678A>T"	"r.(?)"	"p.(Ala226=)"	""	""
"0000565077"	"00000628"	"50"	"1409"	"0"	"1409"	"0"	"c.1409G>A"	"r.(?)"	"p.(Gly470Asp)"	""	""
"0000565078"	"00000628"	"30"	"1568"	"0"	"1568"	"0"	"c.1568C>T"	"r.(?)"	"p.(Pro523Leu)"	""	""
"0000565079"	"00000628"	"50"	"1808"	"0"	"1808"	"0"	"c.1808G>A"	"r.(?)"	"p.(Arg603His)"	""	""
"0000565080"	"00000628"	"30"	"1860"	"0"	"1860"	"0"	"c.1860C>T"	"r.(?)"	"p.(Asp620=)"	""	""
"0000565081"	"00000628"	"50"	"2053"	"6"	"2053"	"6"	"c.2053+6T>C"	"r.(=)"	"p.(=)"	""	""
"0000565082"	"00000628"	"30"	"2105"	"0"	"2105"	"0"	"c.2105A>G"	"r.(?)"	"p.(Asn702Ser)"	""	""
"0000565084"	"00000628"	"10"	"2455"	"7"	"2455"	"7"	"c.2455+7G>A"	"r.(=)"	"p.(=)"	""	""
"0000565085"	"00000628"	"30"	"2508"	"0"	"2508"	"0"	"c.2508G>C"	"r.(?)"	"p.(Ser836=)"	""	""
"0000565086"	"00000628"	"50"	"2636"	"0"	"2636"	"0"	"c.2636G>A"	"r.(?)"	"p.(Arg879Gln)"	""	""
"0000565087"	"00000628"	"30"	"2724"	"0"	"2724"	"0"	"c.2724A>G"	"r.(?)"	"p.(Thr908=)"	""	""
"0000565089"	"00000628"	"30"	"3322"	"0"	"3322"	"0"	"c.3322G>A"	"r.(?)"	"p.(Val1108Ile)"	""	""
"0000565090"	"00000628"	"50"	"3578"	"0"	"3578"	"0"	"c.3578A>G"	"r.(?)"	"p.(Gln1193Arg)"	""	""
"0000565091"	"00000628"	"30"	"3621"	"0"	"3621"	"0"	"c.3621T>C"	"r.(?)"	"p.(Gly1207=)"	""	""
"0000565092"	"00000628"	"50"	"3703"	"0"	"3703"	"0"	"c.3703A>C"	"r.(?)"	"p.(Met1235Leu)"	""	""
"0000565093"	"00000628"	"50"	"4052"	"0"	"4052"	"0"	"c.4052C>T"	"r.(?)"	"p.(Pro1351Leu)"	""	""
"0000565094"	"00000628"	"30"	"4111"	"4"	"4111"	"8"	"c.4111+4_4111+8dup"	"r.spl?"	"p.?"	""	""
"0000617206"	"00000628"	"50"	"1981"	"0"	"1981"	"0"	"c.1981C>T"	"r.(?)"	"p.(Arg661Ter)"	""	""
"0000623867"	"00000628"	"30"	"1723"	"-10"	"1723"	"-10"	"c.1723-10A>G"	"r.(=)"	"p.(=)"	""	""
"0000623868"	"00000628"	"30"	"2054"	"-3"	"2054"	"-3"	"c.2054-3T>C"	"r.spl?"	"p.?"	""	""
"0000623869"	"00000628"	"50"	"3349"	"0"	"3349"	"0"	"c.3349G>A"	"r.(?)"	"p.(Val1117Met)"	""	""
"0000623870"	"00000628"	"50"	"4016"	"0"	"4016"	"0"	"c.4016C>T"	"r.(?)"	"p.(Thr1339Ile)"	""	""
"0000649839"	"00000628"	"50"	"2105"	"0"	"2105"	"0"	"c.2105A>G"	"r.(?)"	"p.(Asn702Ser)"	""	""
"0000658408"	"00000628"	"50"	"527"	"0"	"527"	"0"	"c.527A>G"	"r.(?)"	"p.(Asn176Ser)"	""	""
"0000658409"	"00000628"	"50"	"1457"	"0"	"1457"	"0"	"c.1457A>T"	"r.(?)"	"p.(Gln486Leu)"	""	""
"0000658410"	"00000628"	"50"	"3151"	"0"	"3151"	"0"	"c.3151G>T"	"r.(?)"	"p.(Ala1051Ser)"	""	""
"0000658411"	"00000628"	"50"	"3167"	"0"	"3167"	"0"	"c.3167G>A"	"r.(?)"	"p.(Arg1056His)"	""	""
"0000681174"	"00000628"	"30"	"1317"	"0"	"1317"	"0"	"c.1317G>A"	"r.(?)"	"p.(Leu439=)"	""	""
"0000681175"	"00000628"	"30"	"1818"	"0"	"1818"	"0"	"c.1818G>A"	"r.(?)"	"p.(Pro606=)"	""	""
"0000726927"	"00000628"	"70"	"562"	"0"	"562"	"0"	"c.562C>T"	"r.(?)"	"p.(Arg188*)"	""	""
"0000726928"	"00000628"	"50"	"2567"	"0"	"2567"	"0"	"c.2567C>T"	"r.(?)"	"p.(Thr856Ile)"	""	""
"0000726929"	"00000628"	"50"	"2636"	"0"	"2636"	"0"	"c.2636G>A"	"r.(?)"	"p.(Arg879Gln)"	""	""
"0000726930"	"00000628"	"90"	"2654"	"0"	"2654"	"0"	"c.2654G>A"	"r.(?)"	"p.(Trp885*)"	""	""
"0000808528"	"00000628"	"50"	"3605"	"0"	"3605"	"0"	"c.3605G>A"	"r.(?)"	"p.(Ser1202Asn)"	""	""
"0000808529"	"00000628"	"50"	"3880"	"0"	"3880"	"0"	"c.3880G>A"	"r.(?)"	"p.(Gly1294Arg)"	""	""
"0000808530"	"00000628"	"90"	"3986"	"0"	"4001"	"0"	"c.3986_4001dup"	"r.(?)"	"p.(Cys1335Asnfs*18)"	""	""
"0000821060"	"00000628"	"90"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(?)"	"p.(Met1?)"	""	""
"0000821061"	"00000628"	"90"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(?)"	"p.(Met1?)"	""	""
"0000865719"	"00000628"	"30"	"1592"	"0"	"1592"	"0"	"c.1592T>C"	"r.(?)"	"p.(Val531Ala)"	""	""
"0000865720"	"00000628"	"90"	"2745"	"0"	"2746"	"0"	"c.2745_2746del"	"r.(?)"	"p.(Met915Ilefs*2)"	""	""
"0000894600"	"00000628"	"90"	"362"	"0"	"362"	"0"	"c.362T>A"	"r.(?)"	"p.(Leu121*)"	""	""
"0000894601"	"00000628"	"50"	"1157"	"0"	"1157"	"0"	"c.1157G>A"	"r.(?)"	"p.(Arg386Gln)"	""	""
"0000894602"	"00000628"	"50"	"3314"	"0"	"3314"	"0"	"c.3314C>T"	"r.(?)"	"p.(Thr1105Ile)"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 118
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000005797"
"0000000209"	"0000005798"
"0000000210"	"0000013749"
"0000050483"	"0000079672"
"0000095719"	"0000154324"
"0000095720"	"0000154325"
"0000095721"	"0000154326"
"0000095722"	"0000154327"
"0000095723"	"0000154328"
"0000095724"	"0000154329"
"0000095725"	"0000154330"
"0000095726"	"0000154331"
"0000095727"	"0000154332"
"0000095728"	"0000154333"
"0000095729"	"0000154334"
"0000095730"	"0000154335"
"0000095731"	"0000154336"
"0000095732"	"0000154337"
"0000095733"	"0000154338"
"0000095734"	"0000154339"
"0000095735"	"0000154340"
"0000095736"	"0000154341"
"0000095737"	"0000154342"
"0000095738"	"0000154343"
"0000095739"	"0000154344"
"0000095740"	"0000154345"
"0000095741"	"0000154346"
"0000095742"	"0000154347"
"0000095743"	"0000154348"
"0000095744"	"0000154349"
"0000095745"	"0000154350"
"0000095746"	"0000154351"
"0000095747"	"0000154352"
"0000095748"	"0000154353"
"0000095749"	"0000154354"
"0000095750"	"0000154355"
"0000095751"	"0000154356"
"0000095752"	"0000154357"
"0000095753"	"0000154358"
"0000095754"	"0000154359"
"0000095755"	"0000154360"
"0000095756"	"0000154361"
"0000095756"	"0000154362"
"0000095757"	"0000154363"
"0000095757"	"0000154364"
"0000095758"	"0000154365"
"0000095759"	"0000154366"
"0000095760"	"0000154367"
"0000095761"	"0000154368"
"0000095762"	"0000154369"
"0000095763"	"0000154370"
"0000095764"	"0000154371"
"0000095765"	"0000154372"
"0000095769"	"0000154376"
"0000095769"	"0000154377"
"0000095770"	"0000154378"
"0000095771"	"0000154379"
"0000095772"	"0000154380"
"0000095773"	"0000154381"
"0000095774"	"0000154382"
"0000095775"	"0000154383"
"0000095776"	"0000154384"
"0000095777"	"0000154385"
"0000095778"	"0000154386"
"0000095779"	"0000154387"
"0000095780"	"0000154388"
"0000095781"	"0000154389"
"0000095782"	"0000154390"
"0000095783"	"0000154391"
"0000095784"	"0000154392"
"0000095785"	"0000154393"
"0000095786"	"0000154394"
"0000095787"	"0000154395"
"0000095788"	"0000154396"
"0000095789"	"0000154397"
"0000095790"	"0000154398"
"0000095791"	"0000154399"
"0000095792"	"0000154400"
"0000095793"	"0000154401"
"0000095794"	"0000154402"
"0000095795"	"0000154403"
"0000095796"	"0000154404"
"0000095797"	"0000154405"
"0000095798"	"0000154406"
"0000095799"	"0000154407"
"0000095800"	"0000154408"
"0000095801"	"0000154409"
"0000095802"	"0000154410"
"0000095803"	"0000154411"
"0000095804"	"0000154412"
"0000095805"	"0000154413"
"0000095806"	"0000154414"
"0000095807"	"0000154415"
"0000095808"	"0000154416"
"0000095809"	"0000154417"
"0000095810"	"0000154418"
"0000101630"	"0000164225"
"0000101631"	"0000164226"
"0000101632"	"0000164227"
"0000101633"	"0000164228"
"0000101820"	"0000164559"
"0000101821"	"0000164560"
"0000101822"	"0000164561"
"0000109080"	"0000175144"
"0000109081"	"0000175145"
"0000134105"	"0000223793"
"0000145512"	"0000237885"
"0000145513"	"0000237887"
"0000145515"	"0000237888"
"0000145517"	"0000237890"
"0000145519"	"0000237892"
"0000164645"	"0000368216"
"0000164646"	"0000368217"
"0000164647"	"0000368218"
"0000164648"	"0000368219"
"0000293150"	"0000649839"
"0000391312"	"0000821060"
"0000391313"	"0000821061"